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

Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1 ‐associated Noonan syndrome: Expanding the phenotype and review of the literature
ConclusionWe report a case of neonatal Noonan syndrome associated withRIT1 mutation. The clinical suspicion for Noonan syndrome was based only on the congenital heart defect, persistent monocytosis, and myeloproliferative process as the child lacked all other hallmarks characteristics of Noonan syndrome. However, the patient had an unusually malignant ventricular dysrhythmia that lead to his demise. The case highlights the fact that despite its heterogeneous presentation,RIT1‐associated Noonan syndrome can be extremely severe with poor outcome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 12, 2020 Category: Genetics & Stem Cells Authors: Safwat A. Aly, Kenneth M. Boyer, Brie ‐Ann A. Muller, Davide Marini, Carolyn H. Jones, Hoang H. Nguyen Tags: CLINICAL REPORT Source Type: research

β‐Thalassemia pathogenic variants in a cohort of children from the East African coast
Conclusionsβ‐Thalassemia is present in Kilifi, Kenya, an observation that has implications for the diagnosis and clinical care of children from the East Africa region. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 11, 2020 Category: Genetics & Stem Cells Authors: Alexander W. Macharia, George Mochamah, Sophie Uyoga, Carolyne M. Ndila, Gideon Nyutu, Metrine Tendwa, Emily Nyatichi, Johnstone Makale, Russell E. Ware, Thomas N. Williams Tags: ORIGINAL ARTICLE Source Type: research

Roles of HOTAIR in lung cancer susceptibility and prognosis
ConclusionOur study demonstrated thatHOTAIR expression increased in NSCLC, and that the genotypes of rs920778 could be useful in the diagnosis and prognosis of lung cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 11, 2020 Category: Genetics & Stem Cells Authors: Meng ‐Meng Ren, Sen Xu, Yu‐Bo Wei, Juan‐Juan Yang, Ya‐Nan Yang, Shan‐Shan Sun, You‐Jie Li, Ping‐Yu Wang, Shu‐Yang Xie Tags: ORIGINAL ARTICLE Source Type: research

The first concurrent detection of mitochondrial DNA m.3243A > G mutation, deletion, and depletion in a family with mitochondrial diabetes
ConclusionOur study points out, for the first time, a severe phenotypic expression of the m.3243A>G point mutation in association with mtDNA deletion and depletion in MD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 11, 2020 Category: Genetics & Stem Cells Authors: Mouna Tabebi, Wajdi Safi, Rahma Felhi, Olfa Alila Fersi, Leila Keskes, Mohamed Abid, Mouna Mnif, Faiza Fakhfakh Tags: ORIGINAL ARTICLE Source Type: research

Shortened consent forms for genome ‐wide sequencing: Parent and provider perspectives
ConclusionIt is important to include both parents and HCP in the design of GWS consent forms, and also, to help connect families who have a shared diagnosis after the post ‐test counseling session. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2020 Category: Genetics & Stem Cells Authors: Emma C. Hitchcock, CAUSES Study, Alison M. Elliott Tags: ORIGINAL ARTICLE Source Type: research

Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations
ConclusionWe suggest that rather than ARHSP or JALS, combined ARHSP/JALS is the appropriate description of seven patients studied. Criteria for ARHSP, JALS, and combined ARHSP/JALS designations among patients withSPG11 mutations are suggested. The importance of performing both EDX and MRI is emphasized. Initial screening for p.Glu1026Argfs*4 may facilitateSPG11 screenings in Iranian patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2020 Category: Genetics & Stem Cells Authors: Marzieh Khani, Hosein Shamshiri, Farzad Fatehi, Mohammad Rohani, Bahram Haghi Ashtiani, Fahimeh Haji Akhoundi, Afagh Alavi, Hamidreza Moazzeni, Hanieh Taheri, Mina Tolou Ghani, Leila Javanparast, Seyyed Saleh Hashemi, Ramona Haji Seyed Javadi, Tags: ORIGINAL ARTICLE Source Type: research

Reclassification of genetic variants in children with long QT syndrome
ConclusionThis finding confirms genetic variant interpretation as a dynamic process and underlines the importance of ongoing genetic counseling, especially in LQTS patients with minor clinical criteria. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2020 Category: Genetics & Stem Cells Authors: Dominik S. Westphal, Tobias Burkard, Alexander Moscu ‐Gregor, Roman Gebauer, Gabriele Hessling, Cordula M. Wolf Tags: ORIGINAL ARTICLE Source Type: research

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family
ConclusionTo our knowledge, our clinical report is of significance as it is the third kindred to be identified with affected members with two distinct genetic etiologies for TSC. Our case report highlights the importance of incorporating genetic testing into the clinical evaluation for individuals with features suggestive of TSC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2020 Category: Genetics & Stem Cells Authors: Kate Mowrey, Mary Kay Koenig, Charles A. Szabo, Joshua Samuels, Shannon Mulligan, Deborah A. Pearson, Hope Northrup Tags: CLINICAL REPORT Source Type: research

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence
ConclusionThese five cases further demonstrated the necessity to pursue follow ‐up cytogenetic analysis to characterize mosaic patterns and structural abnormalities involving sex chromosomes and their value for prenatal genetic counseling. A workflow showing the performance of current NIPS and cytogenetic analysis for SCA was summarized. These results could facilitate an evi dence‐based approach to guide prenatal diagnosis of SCA. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2020 Category: Genetics & Stem Cells Authors: Xiaolei Xie, Weihe Tan, Fuguang Li, Eric Carrano, Paola Ramirez, Autumn DiAdamo, Brittany Grommisch, Katherine Amato, Hongyan Chai, Jiadi Wen, Peining Li Tags: REVIEW ARTICLE Source Type: research

A novel variant of the IFITM5 gene within the 5 ′‐UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum
ConclusionThis study identified a novel pathogenic variant ofIFITM5, which not only manifested the molecular characteristics ofIFITM5, but also provided new evidence for the study of the molecular mechanisms of IFITM5 association with OI. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 8, 2020 Category: Genetics & Stem Cells Authors: Dong Wu, Yuxin Wang, Huijuan Huang Tags: ORIGINAL ARTICLE Source Type: research

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment
ConclusionAnorexia nervosa is an eating disorder with a strong genetic component that contributes to its etiology. Various genetic approaches might help in the molecular diagnosis of this disease and in devising novel therapeutic options. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 5, 2020 Category: Genetics & Stem Cells Authors: Stefano Paolacci, Aysha Karim Kiani, Elena Manara, Tommaso Beccari, Maria Rachele Ceccarini, Liborio Stuppia, Pietro Chiurazzi, Laura Dalla Ragione, Matteo Bertelli Tags: REVIEW ARTICLE Source Type: research

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort
Molecular Genetics& Genomic Medicine, Volume 8, Issue 4, April 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 3, 2020 Category: Genetics & Stem Cells Authors: Shuo Li, Hui Miao, Hongbo Yang, Linjie Wang, Fengying Gong, Shi Chen, Huijuan Zhu, Hui Pan Tags: CORRIGENDUM Source Type: research

Cover
The inside cover image is based on the Original ArticleNovel KLHL26 variant associated with a familial case of Ebstein șs anomaly and left ventricular noncompaction by Sai Suma K. Samudrala et al.,https://doi.org/10.1002/mgg3.1152. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 3, 2020 Category: Genetics & Stem Cells Authors: Sai Suma K. Samudrala, Lauren M. North, Karl D. Stamm, Michael G. Earing, Michele A. Frommelt, Richard Willes, Swarnendu Tripathi, Nikita R. Dsouza, Michael T. Zimmermann, Donna K. Mahnke, Huan Ling Liang, Michael Lund, Chien ‐Wei Lin, Gabr Tags: COVER Source Type: research

Cover
The cover image is based on the Clinical ReportNovel SMAD3 p.Arg386Thr genetic variant co ‐segregating with thoracic aortic aneurysm and dissection by Karolina Engstr öm et al.,https://doi.org/10.1002/mgg3.1089. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 3, 2020 Category: Genetics & Stem Cells Authors: Karolina Engstr öm, Farkas Vánky, Malin Rehnberg, Cecilia Trinks, Jon Jonasson, Anna Green, Cecilia Gunnarsson Tags: COVER Source Type: research

Issue Information
Molecular Genetics& Genomic Medicine, Volume 8, Issue 4, April 2020. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 3, 2020 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research