A novel missense variant in MYO3A is associated with autosomal dominant high ‐frequency hearing loss in a German family
ConclusionCorrelation analysis of pure ‐tone hearing thresholds revealed progressive hearing loss, especially in the high‐frequencies. In the present study, we report the first dominant likely pathogenic variant inMYO3A in a European family and further supportMYO3A as an autosomal dominant hearing loss gene. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 10, 2020 Category: Genetics & Stem Cells Authors: Julia Doll, Michaela A. H. Hofrichter, Paulina Bahena, Alfred Heihoff, Dennis Segebarth, Tobias M üller, Marcus Dittrich, Thomas Haaf, Barbara Vona Tags: CLINICAL REPORT Source Type: research

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co ‐inheritance
ConclusionThis study describes the phenotype associated with a heterozygous loss of function variant inARX. Moreover, it highlights the importance of investigating both chromosomal and genetic contributions in cases of complex syndromic phenotypes involving CNS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 10, 2020 Category: Genetics & Stem Cells Authors: Alice Traversa, Enrica Marchionni, Agnese Giovannetti, Maria L. Genovesi, Noemi Panzironi, Katia Margiotti, Giulia Napoli, Francesca Piceci Sparascio, Alessandro De Luca, Francesco Petrizzelli, Massimo Carella, Francesco Cardona, Silvia Bernar Tags: CLINICAL REPORT Source Type: research

Issue Information
Molecular Genetics& Genomic Medicine, Volume 8, Issue 6, June 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 9, 2020 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease
ConclusionsWe have identified novel pathogenic variants in the MSUD ‐related genes in the pedigree of the three patient's families. Our findings expand the mutational spectrum of MSUD and provide the scientific basis for genetic counseling for the patient's families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 9, 2020 Category: Genetics & Stem Cells Authors: Thi T. N. Nguyen, Chi D. Vu, Ngoc L. Nguyen, Thi T. H. Nguyen, Ngoc K. Nguyen, Huy H. Nguyen Tags: ORIGINAL ARTICLE Source Type: research

A novel c.2179T > C mutation blocked the intracellular transport of PHEX protein and caused X ‐linked hypophosphatemic rickets in a Chinese family
ConclusionOur results confirmed that the mutant PHEX protein was lowly glycosylated and retarded within the ER, the intact FGF23 level in cell culture media caused by the mutant PHEX protein was significantly elevated compared to that of the WT group, which may explain why the single base mutation in thePHEX led to XLH syndrome in this family. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 8, 2020 Category: Genetics & Stem Cells Authors: Baowei Li, Xiong Wang, Xiaodan Hao, Yanran Liu, Yin Wang, Chan Shan, Xiang Ao, Ying Liu, HongChu Bao, Peifeng Li Tags: ORIGINAL ARTICLE Source Type: research

Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro ‐Caribbean family
ConclusionWe describe a collaboration between a pediatrics team from a resource ‐limited nation and USA‐based medical geneticists. Reports describing individuals of West Indian ancestry are rarely found in the medical literature. Here, we present a family of Afro‐Caribbean ancestry with CdLS presenting with phenotypic variability, including unusual lower limb abnormalitie s. The observation of this novel family adds to our knowledge of the phenotypic and molecular aspects of CdLS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 8, 2020 Category: Genetics & Stem Cells Authors: Wayne Thompson, Patrick Z. Carey, Tyhiesia Donald, Beverly Nelson, Elizabeth J. Bhoj, Dong Li, Hakon Hakonarson, Maricela Ramirez, Sarah H. Elsea, Janice L. Smith, John C. Carey, Andrew K. Sobering Tags: CLINICAL REPORT Source Type: research

Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias
AR and CYP19A1 were significantly decreased in severe and mild hypospadias. AR and ER signaling could play a crucial role in the development of hypospadias. Inconsistent AR expression may be caused by the feedback loop of ER expression or combined genetic effects with other risk genes. AbstractBackgroundThe aberrant expression of genes involved in androgen metabolism and genetic contribution are unclear in hypospadias.MethodsWe compared gene expression profiles by RNA sequencing from five non ‐hypospadiac foreskins, five mild hypospadiac foreskins, and five severe hypospadiac foreskins. In addition, to identify rare codi...
Source: Molecular Genetics & Genomic Medicine - June 8, 2020 Category: Genetics & Stem Cells Authors: Zhongzhong Chen, Xiaoling Lin, Yaping Wang, Hua Xie, Fang Chen Tags: ORIGINAL ARTICLE Source Type: research

Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis
ConclusionThe contribution of this work is discreet, since only 4 genes were analyzed and sample size is small. However, this strategy could be improved by sequencing theFGFR1,FGFR2,FGFR3, andTWIST1 genes, to determine different pathogenic variants. On the other hand, it would be important to include other genes, such asTCF12 (OMIM 600,480),MSX2 (OMIM 123,101),RAB23 (OMIM 606,144), andEFNB1 (OMIM 300,035), to determine their participation in craniosynostosis in the Mexican population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 8, 2020 Category: Genetics & Stem Cells Authors: Aurora Ibarra ‐Arce, Manuel Almaraz‐Salinas, Víctor Martínez‐Rosas, Gabriela Ortiz de Zárate‐Alarcón, Laura Flores‐Peña, Mirza Romero‐Valdovinos, Angélica Olivo‐Díaz Tags: ORIGINAL ARTICLE Source Type: research

An audiological perspective on ‘‘Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?”
Molecular Genetics& Genomic Medicine, EarlyView. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 5, 2020 Category: Genetics & Stem Cells Authors: Davide Brotto, Renzo Manara, Pietro Scimemi, Flavia Sorrentino, Silvia Montino, Francesca Maritan, Ezio Caserta, Elisa Lovo, Alessandro Martini, Rosamaria Santarelli, Patrizia Trevisi Tags: LETTER TO THE EDITOR Source Type: research

Health orientation and individual tendencies of a sample of Italian genetic testing consumers
ConclusionOur results depict Italian GT consumers as health ‐oriented, focused on prevention, who do not have a pessimistic perception of their condition but do not like to “bet” on their health, and probably their intention (and belief) is to acquire genetic information in order to reduce uncertainty and increase their decision‐making “power” re lated to their health. Taken together, all these results contribute to describe the population of GT users in European countries, to regulate the provision of GT results and to entail the communication of genetic risk information based on a consumers&rs...
Source: Molecular Genetics & Genomic Medicine - June 5, 2020 Category: Genetics & Stem Cells Authors: Serena Oliveri, Ilaria Durosini, Ilaria Cutica, Clizia Cincidda, Francesca Spinella, Marina Baldi, Alessandra Gorini, Gabriella Pravettoni Tags: ORIGINAL ARTICLE Source Type: research

Clinical and molecular characterization of 12 prenatal cases of Cri ‐du‐chat syndrome
ConclusionThis study defined the molecular bases for the patients of CdCS, which is important for genetic counseling for these families. The findings of present study expand the clinical features of CdCS in the fetal period, and provided important information for further refining the genotypic –phenotypic correlations for this syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 4, 2020 Category: Genetics & Stem Cells Authors: Ying Peng, Jialun Pang, Jiancheng Hu, Zhengjun Jia, Hui Xi, Na Ma, Shuting Yang, Jing Liu, Xiaoliang Huang, Chengyuan Tang, Hua Wang Tags: ORIGINAL ARTICLE Source Type: research

Germline whole genome sequencing in pediatric oncology in Denmark —Practitioner perspectives
ConclusionOverall, healthcare professionals see dilemmas arising from WGS in the pediatric oncology clinic, and some advocate for further educational sessions with families and healthcare professionals. Despite concerns, healthcare professionals overwhelmingly supported early approach of families regarding WGS. Interviewees disagree on the benefits of surveillance based on genetic findings. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 4, 2020 Category: Genetics & Stem Cells Authors: Anna Byrjalsen, Ulrik K. Stoltze, Anders Castor, Ayo Wahlberg Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees
ConclusionThese results provide new insights into the molecular mechanisms underlying the pathogenicity ofMLH1 mutations and reaffirm the importance of genetic screening for the early diagnosis of LS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 3, 2020 Category: Genetics & Stem Cells Authors: Fan Li, Yunwei Xia, Guoguang Wang, Chaoyang Tang, Tian Zhan, Jian Shen, Jianping Zhang Tags: ORIGINAL ARTICLE Source Type: research

Dental malformations associated with biallelic MMP20 mutations
ConclusionThese results expand the spectrum ofMMP20 disease ‐causing mutations and provide the first evidence for MMP20 function during dentin formation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 3, 2020 Category: Genetics & Stem Cells Authors: Shih ‐Kai Wang, Hong Zhang, Michael B. Chavez, Yuanyuan Hu, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Connor D. Colvin, Tamara N. Kolli, Michelle H. Tan, Yin‐Lin Wang, Pei‐Ying Lu, Jung‐Wook Kim, Brian L. Foster, John D. Bartlett Tags: ORIGINAL ARTICLE Source Type: research

Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease
ConclusionsHematuria with nephrotic ‐range proteinuria or moderate to severe albuminuria was common in Dent disease patients. Extrarenal manifestations were observed in Dent‐1 patients, which extends the phenotypic spectrum. In addition, ACE inhibitors and ARBs are well tolerated, and they are partially effective in controlling al buminuria. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 3, 2020 Category: Genetics & Stem Cells Authors: Haiyue Deng, Yanqin Zhang, Huijie Xiao, Yong Yao, Hongwen Zhang, Xiaoyu Liu, Baige Su, Na Guan, Xuhui Zhong, Suxia Wang, Jie Ding, Fang Wang Tags: ORIGINAL ARTICLE Source Type: research

Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)
ConclusionThe affected siblings have similar phenotype, including ID, short stature, and microcephaly. Their mother had a history of seven first ‐trimester miscarriages and one elective termination because of multiple malformations. This abnormal karyotype was also thought to be responsible for the mother's recurrent miscarriage. WES in combination with CNV‐seq analysis is very helpful for identification of the genetic causes of ID witho ut positive karyotype findings. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 2, 2020 Category: Genetics & Stem Cells Authors: Ying Dai, Yongjuan Wei, Yuanyuan Chen, Hui Guo, Min Zhong Tags: ORIGINAL ARTICLE Source Type: research

HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals
ConclusionsIn our case ‐control study, there was a significant association between the rs1008348 polymorphism and AMS susceptibility, suggesting that this particular SNP might be a Han‐specific risk factor for AMS. We believe that this study establishes a foundation for further elucidation of the genetic mechanisms un derlying AMS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 1, 2020 Category: Genetics & Stem Cells Authors: Zhicheng Liu, Hong Chen, Ting Xu, Xiaomei Wang, Chunyan Yao Tags: ORIGINAL ARTICLE Source Type: research

Pregnancy management in a patient with stickler syndrome
ConclusionThere is a paucity of data available regarding the maternal outcomes of women affected with collagen disorders, especially Stickler Syndrome. This case highlights the importance of accurate genetic diagnosis in the prenatal period and provides information to physicians caring for patients with Stickler syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 1, 2020 Category: Genetics & Stem Cells Authors: Julie Gomez, Stephanie M. Rice, Mona M. Makhamreh, Huda B. Al ‐Kouatly Tags: CLINICAL REPORT Source Type: research

Whole ‐exome sequencing and genome‐wide association studies identify novel sarcopenia risk genes in Han Chinese
AbstractSarcopenia is a complex polygenic disease, and its molecular mechanism is still unclear. Whole lean body mass (WLBM) is a heritable trait predicting sarcopenia. To identify genomic loci underlying, we performed a whole ‐exome sequencing (WES) of WLBM variation with high sequencing depth (more than 40*) in 101 Chinese subjects. We then replicated in the major findings in the large‐scale UK Biobank (UKB) cohort (N = 217,822) for WLBM. The results of four single‐nucleotide polymorphisms (SNPs) were significant both in the discovery stage and replication stage: SNP rs740681 (discoveryp = 1.66&...
Source: Molecular Genetics & Genomic Medicine - June 1, 2020 Category: Genetics & Stem Cells Authors: Shu Ran, Xiao He, Zi ‐Xuan Jiang, Yu Liu, Yu‐Xue Zhang, Lei Zhang, Gui‐Shan Gu, Yufang Pei, Bao‐Lin Liu, Qing Tian, Yong‐Hong Zhang, Jing‐Yu Wang, Hong‐Wen Deng Tags: ORIGINAL ARTICLE Source Type: research

A TOMM40/APOE allele encoding APOE ‐E3 predicts high likelihood of late‐onset Alzheimer’s disease in autopsy cases
ConclusionThe striking association ofTOMM40 only with high likelihood AD may explain some contrasting results forTOMM40 in clinical studies and may reflect an association with more advanced disease and/or suggest a role ofTOMM40 in the pathogenesis of neurofibrillary tangles. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 30, 2020 Category: Genetics & Stem Cells Authors: Selma M. Soyal, Markus Kwik, Ognian Kalev, Stefan Lenz, Greta Zara, Peter Strasser, Wolfgang Patsch, Serge Weis Tags: ORIGINAL ARTICLE Source Type: research

Utilization of health information technology among cancer genetic counselors
The utilization and satisfaction of health IT tools among cancer genetic counselors varies. Health IT tools that enable the collection of family health history, cancer screening, pedigree management, and telegenetics represent the greatest opportunities for research and development. AbstractBackgroundHealth information technology (IT) is becoming increasingly utilized by cancer genetic counselors (CGCs). We sought to understand the current engagement, satisfaction, and opportunities to adopt new health IT tools among CGCs.MethodsWe conducted a mixed ‐mode survey among 128 board‐certified CGCs using both closed‐ and o...
Source: Molecular Genetics & Genomic Medicine - May 28, 2020 Category: Genetics & Stem Cells Authors: Jordon B. Ritchie, Caitlin G. Allen, Heath Morrison, Michelle Nichols, Steven D. Lauzon, Joshua D. Schiffman, Chanita Hughes Halbert, Brandon M. Welch Tags: ORIGINAL ARTICLE Source Type: research

Fumarate hydratase c.914T   >  C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome
ConclusionThis combination of evidence suggests that theFH c.914C  >  T (p.Phe305Ser) is pathogenic for HLRCC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 28, 2020 Category: Genetics & Stem Cells Authors: Kelsey E. Breen, Maria I. Carlo, Yelena Kemel, Anna Maio, Ying ‐Bei Chen, Liying Zhang, Ozge Ceyhan‐Birsoy, Diana Mandelker Tags: CLINICAL REPORT Source Type: research

A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
ConclusionOverall, the complicated nature of our case underlines the importance of discussing with parents the possibility of both atypical and discordant results during preconfirmatory amniocentesis counseling and consent. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 28, 2020 Category: Genetics & Stem Cells Authors: Jin Li, Mingshui Xie, Fang Wang, Jianhong Ma, Jiafu Li, Chen Chen, Zhimin Li, Juan Wang, Yuanzhen Zhang, Yirong Li Tags: CLINICAL REPORT Source Type: research

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1
ConclusionsOur study first described the ophthalmic and neurologic characteristics of a small cohort of unrelated mainland Chinese patients with sialidosis type 1. We found that c.544A>G (p. S182G) might be a hotspot variant in Chinese patients. The accumulation of metabolic products in the nerve fiber and ganglion cell layers is a characteristic ocular finding that could be sensitively detected by OCT and FAF imaging. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 26, 2020 Category: Genetics & Stem Cells Authors: Xiaoxu Han, Shijing Wu, Min Wang, Hui Li, Yan Huang, Ruifang Sui Tags: ORIGINAL ARTICLE Source Type: research

The role of sodium channels in sudden unexpected death in pediatrics
We report variants in several sodium channel genes, involved in central nervous system and/or cardiac rhythm dysfunction. AbstractBackgroundSudden Unexpected Death in Pediatrics (SUDP) is a tragic event, likely caused by the complex interaction of multiple factors. The presence of hippocampal abnormalities in many children with SUDP suggests that epilepsy ‐related mechanisms may contribute to death, similar to Sudden Unexplained Death in Epilepsy. Because of known associations between the genesSCN1A andSCN5A and sudden death, and shared mechanisms and patterns of expression in genes encoding many voltage ‐gated sodium ...
Source: Molecular Genetics & Genomic Medicine - May 25, 2020 Category: Genetics & Stem Cells Authors: Anne M. Rochtus, Richard D. Goldstein, Ingrid A. Holm, Catherine A. Brownstein, Eduardo P érez‐Palma, Robin Haynes, Dennis Lal, Annapurna H. Poduri Tags: ORIGINAL ARTICLE Source Type: research

Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations
For the first timeAPOE‐Osaka/Kurashiki andAPOE‐Chicago mutations reported in Chinese; Lipoprotein glomerulopathy (LPG) patients with urine protein remission had slower renal function decrease; LPG was associated with higher blood pressure; Serum apoE levels were higher in patients with low‐density lipoprotein receptor binding region mutatio ns of APOE AbstractBackgroundLipoprotein glomerulopathy (LPG) is a rare kidney disease caused byAPOE mutations. The aim of this study was to correlate the genetic and clinical features of LPG.MethodsTotally eight LPG patients were recruited in this study and Sanger sequencing ofAP...
Source: Molecular Genetics & Genomic Medicine - May 22, 2020 Category: Genetics & Stem Cells Authors: Mingxin Yang, Qinjie Weng, Xiaoxia Pan, Hafiz Muhammad Jafar Hussain, Shuwen Yu, Jing Xu, Xialian Yu, Yunzi Liu, Yuanmeng Jin, Chunli Zhang, Xiao Li, Hong Ren, Nan Chen, Jingyuan Xie Tags: ORIGINAL ARTICLE Source Type: research

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings
ConclusionOur results indicated that this novelCLN3 missense variant is associated with teenage ‐onset isolated retinal dystrophy. This is the first report of any patient withCLN3‐associated disorder in the Japanese population. Although fingerprint profiles have never been reported inCLN3‐associated isolated retinal dystrophy, these profiles were observed, albeit infrequently, suggesting that frequency of the fingerprint profiles might depend on variant types. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 22, 2020 Category: Genetics & Stem Cells Authors: Kei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Toshiaki Tachibana, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano Tags: CLINICAL REPORT Source Type: research

MicroRNA ‐383 inhibits proliferation, migration, and invasion in hepatocellular carcinoma cells by targeting PHF8
miR ‐383 could inhibit the proliferation, migration and invasion of HCC cells by targeting PHF8, which will provide a basis for miR‐383 targeted therapy for HCC. AbstractBackgroundTo study the effect of microRNA ‐383 (miR‐383) on cell proliferation, migration, and invasion of hepatocellular carcinoma (HCC) cells, and explore its mechanism.MethodsThe expressions of miR ‐383 and plant homology domain that refers to protein 8 (PHF8) were detected in tissues and cells by quantitative real‐time polymerase chain reaction (qRT‐PCR) or western blot respectively. The miR‐383 group (transfected miR‐383 mimics), miR...
Source: Molecular Genetics & Genomic Medicine - May 22, 2020 Category: Genetics & Stem Cells Authors: Yan Cheng, Na Liu, CaiFeng Yang, Jiong Jiang, Juhui Zhao, Gang Zhao, Fenrong Chen, Hongli Zhao, Yang Li Tags: ORIGINAL ARTICLE Source Type: research

Indeterminate thyroid nodules in the era of molecular genomics
ConclusionGenomic testing has evolved to more comprehensive panels to better stratify indeterminate nodules, including H ürthle cell neoplasms and noninvasive follicular neoplasm with papillary‐like nuclear features. Understanding the methodology of each available test improves patient care and reduces unnecessary costs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 21, 2020 Category: Genetics & Stem Cells Authors: Sarika N. Rao, Victor Bernet Tags: INVITED COMMENTARY Source Type: research

Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G > A mutation
This study aimed to uncover the biological function of thePOLD1 missense mutation.MethodsStable cell lines overexpressing wild ‐typePOLD1 or mutantPOLD1 (c.56G>A, p.Arg19His) were constructed by lentivirus infection. Cell growth curve analysis, cell cycle analysis, and a comet assay were used to analyze the function of thePOLD1 mutation.ResultsThe growth and proliferative ability of the cells withPOLD1 mutation was decreased significantly compared with those of the wild ‐type cells (Student'st test,p 
Source: Molecular Genetics & Genomic Medicine - May 20, 2020 Category: Genetics & Stem Cells Authors: Jing Liu, Yu Liu, Jingxuan Fu, Chengeng Liu, Tingting Yang, Xiaomin Zhang, Min Cao, Peichang Wang Tags: ORIGINAL ARTICLE Source Type: research

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis
ConclusionsIn Northwestern Mexico, the presence of PD ‐ASA alleles was biochemically and molecularly determined, and the frequencies were found to be in HWE. The frequency of PD‐ASA for the North Western Mexican mestizo is 8%. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 19, 2020 Category: Genetics & Stem Cells Authors: Jes ús A. Juárez‐Osuna, Sandra C. Mendoza‐Ruvalcaba, Angela Porras‐Dorantes, Thiago D. Da Silva‐José, José E. García‐Ortiz Tags: ORIGINAL ARTICLE Source Type: research

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome
ConclusionIn this study, we introduce three novel variants identified through gene screening in seven Iranian MFS families. This report is expected to considerably improve genetic counseling for Iranian MFS families. Early precise molecular diagnosis can be helpful for better management and improving the life expectancy of these patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 19, 2020 Category: Genetics & Stem Cells Authors: Fatemeh Bitarafan, Ehsan Razmara, Mehrnoosh Khodaeian, Mohammad Keramatipour, Alireza Kalhor, Ehsan Jafarinia, Masoud Garshasbi Tags: ORIGINAL ARTICLE Source Type: research

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset
ConclusionsThe described mutation leads to elongation of the protein at the carboxi ‐terminal domain (CTD) with altered properties, which are essential for solubility and activity. It suggests that can be the cause of the severe conditions observed in this patient. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 18, 2020 Category: Genetics & Stem Cells Authors: Ana T. Marcos, Diego Amor ós, Beatriz Muñoz-Cabello, Francisco Galán, Eloy Rivas Infante, Luis Alcaraz‐Mas, José M. Navarro‐Pando Tags: CLINICAL REPORT Source Type: research

The pedigree analysis and prenatal diagnosis of Hong Kong αα Thalassemia and the sequence analysis of Hong Kongαα Allele
ConclusionThe two ‐round nested PCR is an effective method to detectHK αα allele. Besides, our study for the first time revealed the sequence of theHK αα allele, the evidence of the same ancestor withHK αα thalassemia and enriched the composition as well as the formation mechanism ofHK αα allele, and immediately opened up novel potential diagnosis and prenatal counseling forHK αα thalassemia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 18, 2020 Category: Genetics & Stem Cells Authors: Wenjuan Wang, Haiqing Zheng, Dan Zeng, Linbin Jiang, Donglan Yu, Yuzhong Yang, Qiao Feng, Yang Xia, Chunjiang Zhu Tags: ORIGINAL ARTICLE Source Type: research

Children from nuclear families with bad parental relationship could develop tic symptoms
Flow diagram of data analysis. AbstractBackgroundStudies have reported the impact of chronic childhood and adolescent tic disorder (TD) on families. However, few researches focused on the relationship between family environment and diagnosis of TD. We aim to assess the influence of couple relationship and family structure on the onset of TD.MethodsA total of 660 parents of patients with TD (aged 6 –12 years) and 641 parents of controls completed questionnaires. Couple relationship and family structure were selected by regression of binary logistic analysis as the risk factors. Couple relationship was divided int...
Source: Molecular Genetics & Genomic Medicine - May 18, 2020 Category: Genetics & Stem Cells Authors: Pengcheng Zhu, Min Wu, Pinxian Huang, Xin Zhao, Xiaoyi Ji Tags: ORIGINAL ARTICLE Source Type: research

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?
ConclusionsWe propose that pathogenicPTEN variants may predispose to medulloblastoma, and show that remission was reached with current treatment protocols. ThePTEN gene should be included in the genetic testing provided to patients who develop medulloblastoma at an early age. We recommend brain magnetic resonance imaging upon an unexpected acceleration of growth of head circumference for pediatric patients harboring pathogenic germlinePTEN variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 17, 2020 Category: Genetics & Stem Cells Authors: Jussi ‐Pekka Tolonen, Anne Hekkala, Outi Kuismin, Hannu Tuominen, Maria Suo‐Palosaari, Olli Tynninen, Riitta Niinimäki Tags: CLINICAL REPORT Source Type: research

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies
ConclusionThe study hypothesizes the presence of a new RO, not including the previously reported candidate genes, and attempt to define the associated molecular and psychomotor/neurobehavioral phenotype. This region encompasses the distal breakpoint of RO1 and the proximal breakpoint of RO2, and seems to be associated with intellectual disability (ID), hypotonia, epilepsy, and corpus callosum abnormalities. Although more cases are needed, we speculated onSNX6(*606098) andBAZ1A(*605680) as potential candidate genes associated with the corpus callosum abnormalities. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 16, 2020 Category: Genetics & Stem Cells Authors: Emanuela Ponzi, Mattia Gentile, Emanuele Agolini, Emilia Matera, Roberto Palumbi, Antonia Lucia Buonadonna, Antonia Peschechera, Alessandra Gabellone, Maria Fatima Antonucci, Lucia Margari Tags: CLINICAL REPORT Source Type: research

Loss ‐of‐function mutation in TSGA10 causes acephalic spermatozoa phenotype in human
ConclusionThese results suggest that the novel homozygous frameshift insertion mutation of TSGA10 is a cause of acephalic spermatozoa. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 15, 2020 Category: Genetics & Stem Cells Authors: Yuanyuan Ye, Xiaoli Wei, Yanwei Sha, Na Li, Xiaohong Yan, Ling Cheng, Duanrui Qiao, Weidong Zhou, Rongfeng Wu, Qiaobin Liu, Youzhu Li Tags: ORIGINAL ARTICLE Source Type: research

Clinical and genetic analysis of five Chinese patients with urea cycle disorders
ConclusionsTwo novel variants expand the mutational spectrums of theOTC andASL. All the results may contribute to a better understanding of the clinical course and genetic characteristics of patients with urea cycle disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 15, 2020 Category: Genetics & Stem Cells Authors: Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu Tags: ORIGINAL ARTICLE Source Type: research

Novel mutation in USP26 associated with azoospermia in a Sertoli cell ‐only syndrome patient
ConclusionsThe finding in our patient and the discussion on the reviewed literature support a possible role forUSP26 in male fertility. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 15, 2020 Category: Genetics & Stem Cells Authors: Maram Arafat, Atif Zeadna, Eliahu Levitas, Iris Har Vardi, Benzion Samueli, Ruth Shaco ‐Levy, Salam Dabsan, Eitan Lunenfeld, Mahmoud Huleihel, Ruti Parvari Tags: CLINICAL REPORT Source Type: research

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers
ConclusionOur study expands the spectrum of mutations in lipofuscinosis. This is the first study to describe the molecular basis of NCLs in Russia and has profound and numerous clinical implications for diagnosis, genetic counseling, genotype –phenotype correlations, and prognosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 15, 2020 Category: Genetics & Stem Cells Authors: Anastasiya A. Kozina, Elena G. Okuneva, Natalia V. Baryshnikova, Olga B. Kondakova, Ekaterina A. Nikolaeva, Inessa D. Fedoniuk, Svetlana V. Mikhailova, Anna Y. Krasnenko, Ivan F. Stetsenko, Nikolay A. Plotnikov, Olesia I. Klimchuk, Yaroslav V. Tags: ORIGINAL ARTICLE Source Type: research

Missense NR2F1 variant in monozygotic twins affected with the Bosch –Boonstra–Schaaf optic atrophy syndrome
ConclusionIn summary, we described two monozygotic twins harboring a novel Gly105Ser mutation in NR2F1 DNA binding domain, displaying the classical phenotype of BBSOAS ‐affected patients. Our computational data suggest a dominant negative effect of this newly characterized missense variant. To date, this is the first genetic report analyzing in silico structural consequences of NR2F1 Gly105Ser substitution. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 15, 2020 Category: Genetics & Stem Cells Authors: Catia Mio, Federico Fogolari, Laura Pezzoli, Angela V. D ’Elia, Maria Iascone, Giuseppe Damante Tags: CLINICAL REPORT Source Type: research

Acromicric dysplasia with stiff skin syndrome ‐like severe cutaneous presentation in an 8‐year‐old boy with a missense FBN1 mutation: Case report and literature review
ConclusionThis is a report about acromicric dysplasia with stiff skin syndrome ‐like severe cutaneous presentation caused by a single hotspot mutation, further revealing the gene pleiotropy ofFBN1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 14, 2020 Category: Genetics & Stem Cells Authors: Tao Wang, Yuyan Yang, Qi Dong, Huijuan Zhu, Yuehua Liu Tags: ORIGINAL ARTICLE Source Type: research

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld ‐Rieger syndrome
ConclusionOur study extends the spectrum ofPITX2 mutations in individuals with ARS, enabling an improved diagnosis of this rare but serious syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2020 Category: Genetics & Stem Cells Authors: Valeria Lo Faro, Sorath N. Siddiqui, Muhammad I. Khan, Cristina Villanueva ‐Mendoza, Vianney Cortés‐González, Nomdo Jansonius, Arthur A. B. Bergen, Shazia Micheal Tags: CLINICAL REPORT Source Type: research

Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review
ConclusionWe report the first case of coexistence of urogenital abnormalities, including left kidney agenesis and uterus didelphys, with 15q24 microdeletion syndrome, which is also associated with midline defects secondary to abnormal development. Since 15q24 microdeletion syndrome is a relatively new entity, fully characterizing its variation and severity requires additional examination of the genetics, molecular profile and structural and functional abnormalities in affected patients. Due to the limited data in the literature, statistical analysis of abnormalities in each organ system is not possible. However, we can pre...
Source: Molecular Genetics & Genomic Medicine - May 13, 2020 Category: Genetics & Stem Cells Authors: Yaobin Liu, Beth Mapow Tags: CLINICAL REPORT Source Type: research

Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy
ConclusionThese findings provided the insights into the phenotype –genotype–funotype relationships ofSCN2A‐related DEE. The preliminary evaluation using the distinct hints of GOF and LOF helped plan the treatment, and the next precise step should be electrophysiological study. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 13, 2020 Category: Genetics & Stem Cells Authors: Pu Miao, Siyang Tang, Jia Ye, Jianda Wang, Yuting Lou, Bijun Zhang, Xiaoxiao Xu, Xiaoquan Chen, Yuezhou Li, Jianhua Feng Tags: ORIGINAL ARTICLE Source Type: research

Human closed and open apex premolar teeth express different toll ‐like receptor
This study aimed to investigate the expression of TLR2, TLR3, and TLR4 in the human dental pulp of opened and closed apex teeth. The results of the present study suggested increased expression of TLR2 and TLR4 by the maturation of the apex, which may be due to the presence of microorganisms in the normal or destructed dental pulp tissue. Thus, identifying the expression of TLRs molecules in dental pulp tissue helps to develop a deeper knowledge of the immune responses in the oral cavity. Mean ± SEM of normalized gene expression values for TLR2‐4 (above) and western blotting analysis for detection of TLR2‐4 (belo...
Source: Molecular Genetics & Genomic Medicine - May 13, 2020 Category: Genetics & Stem Cells Authors: Reza Jafari, Razieh Karamzadeh, Faezeh Pesaran Hajabbas, Fereshteh Sayyadizadeh, Zahra Chekini, Samaneh Aghajanpour, Leila Shakeri, Kiumars Nazarimoghaddam, Reza Aflatoonian Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
Molecular Genetics& Genomic Medicine, Volume 8, Issue 5, May 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 12, 2020 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alstr öm syndrome
ConclusionWe demonstrated how the diagnosis of a complex heterogeneous disease may be difficult, due to several overlapping manifestations and the possible interaction of more genetic variants that could lead to a more severe and complex phenotype.This paper strongly evidences how genomics is revolutionizing the diagnosis of rare complex disease, representing one of the most essential steps to enable a definitive diagnosis and to establish the etiology for diseases, such as syndromic DCM. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 12, 2020 Category: Genetics & Stem Cells Authors: Barbara Lombardo, Valeria D'Argenio, Emanuele Monda, Andrea Vitale, Martina Caiazza, Lucia Sacchetti, Lucio Pastore, Giuseppe Limongelli, Giulia Frisso, Cristina Mazzaccara Tags: CLINICAL REPORT Source Type: research

A novel prognostic model based on multi ‐omics features predicts the prognosis of colon cancer patients
ConclusionThe prognostic model based on multi ‐omics features and the nomogram model might be valuable for the prognostic prediction of CC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 12, 2020 Category: Genetics & Stem Cells Authors: Haojie Yang, Wei Jin, Hua Liu, Xiaoxue Wang, Jiong Wu, Dan Gan, Can Cui, Yilin Han, Changpeng Han, Zhenyi Wang Tags: ORIGINAL ARTICLE Source Type: research