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 19, 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 18, 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 18, 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 17, 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 17, 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 17, 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 16, 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 15, 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 14, 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 14, 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 14, 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 14, 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 14, 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 13, 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 12, 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 12, 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 12, 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 12, 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 11, 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 11, 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 11, 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 11, 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 10, 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 10, 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 10, 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 7, 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 7, 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 7, 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 7, 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 7, 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 7, 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 4, 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 2, 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 2, 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 2, 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 2, 2020 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

The KLHL40 c.1516A > C is a Chinese ‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
ConclusionAnalysis of theKLHL40 c.1516A>C variant should be considered in prenatal diagnosis of Chinese pregnant patients with suspected congenital neuromuscular disorders or with significant family history of congenital myopathies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 29, 2020 Category: Genetics & Stem Cells Authors: Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher C. H. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Tags: CLINICAL REPORT Source Type: research

CCN6 mutation detection in Chinese patients with progressive pseudo ‐rheumatoid dysplasia and identification of four novel mutations
ConclusionOur findings increase the clinical data of PPD including theCCN6 mutation spectrum, the clinical symptoms and signs. Moreover, the study highlights the utility of WES in reaching definitive diagnoses for PPD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 28, 2020 Category: Genetics & Stem Cells Authors: Yingjie Wang, Ke Xiao, Yuemei Yang, Zhihong Wu, Jin Jin, Guixing Qiu, Xisheng Weng, Xiuli Zhao Tags: ORIGINAL ARTICLE Source Type: research

Genetic polymorphisms of pharmacogenomic VIP variants in the Dai population from Yunnan province
ConclusionsOur study complement the pharmacogenomics information of Dai population from Yunnan province and provide a theoretical basis for personalized medicine. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 28, 2020 Category: Genetics & Stem Cells Authors: Yujing Cheng, Run Dai, Wanlu Chen, Qi Li, Chan Zhang, Tonghua Yang Tags: ORIGINAL ARTICLE Source Type: research

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
ConclusionOur study reports a novel pathogenic variant inGABRA2, characterizes the regions where pathogenic mutations are in the transmembrane helices, and underscores the value of considering sequence, evolutionary, and structural information as a strategy for variant interpretation of novel missense mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 28, 2020 Category: Genetics & Stem Cells Authors: Alba Sanchis ‐Juan, Marcia A. Hasenahuer, James A. Baker, Amy McTague, Katy Barwick, Manju A. Kurian, Sofia T. Duarte, NIHR BioResource, Keren J. Carss, Janet Thornton, F. Lucy Raymond Tags: ORIGINAL ARTICLE Source Type: research

Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine
ConclusionThis is the first study onCHRNA4 variant in BECTS, which widened the genetic spectrum of BECTS and contributed to precise medicine in BECTS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 27, 2020 Category: Genetics & Stem Cells Authors: Xiao Neng, Mao Xiao, Chen Yuanlu, Li Qinyan, Shu Li, Song Zhanyi Tags: ORIGINAL ARTICLE Source Type: research

Mutant COMP shapes growth and development of skull and facial structures in mice and humans
ConclusionTherefore, mutant ‐COMP affects both endochondral and intramembranous bones of the skull resulting in a reduction of the nose and lower facial height in mice and humans, in addition to its well‐defined role in the growth plate chondrocytes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 27, 2020 Category: Genetics & Stem Cells Authors: Alexander Burger, Jasmien Roosenboom, Mohammad Hossain, Seth M. Weinberg, Jacqueline T. Hecht, Karen L. Posey Tags: ORIGINAL ARTICLE Source Type: research

Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency
ConclusionRetinal vein occlusions associated with theMTHFR C677T variant and protein S deficiency may signal impending systemic thromboembolic episodes and warrant aggressive preventative measures. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 27, 2020 Category: Genetics & Stem Cells Authors: Ahra Cho, Sara D. Ragi, Jin Kyun Oh, Jose Ronaldo Lima de Carvalho, Joseph Ryu, Ber ‐Yuh Yang, Stephen H. Tsang Tags: CLINICAL REPORT Source Type: research

Candidate gene associations reveal sex ‐specific Graves’ disease risk alleles among Chinese Han populations
ConclusionThe findings of this study suggest the existence of one potential sex ‐specific Graves’ disease variant on Xq21.1. This could increase our understanding of the pivotal mechanism behind Graves’ disease and ultimately aid in identifying possible therapeutic targets. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 26, 2020 Category: Genetics & Stem Cells Authors: Chen ‐Yan Yan, Yu‐Ru Ma, Feng Sun, Rui‐Jia Zhang, Ya Fang, Qian‐Yue Zhang, Feng‐Yao Wu, Shuang‐Xia Zhao, Huai‐Dong Song Tags: ORIGINAL ARTICLE Source Type: research

Panel ‐based targeted exome sequencing reveals novel candidate susceptibility loci for age‐related cataracts in Chinese Cohort
ConclusionOur study indicates rs129882 and rs1800280 loci are associated with age ‐related cataracts, which enlarge the gene map of age‐related cataracts. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 25, 2020 Category: Genetics & Stem Cells Authors: Jian-Kang Li, Li ‐Li Li, Wei Li, Zi‐Wei Wang, Feng‐Juan Gao, Fang-Yuan Hu, Sheng‐Hai Zhang, Shou-Fang Qu, Jie Huang, Lu-Sheng Wang, Ji-Hong Wu, Fang Chen Tags: ORIGINAL ARTICLE Source Type: research

Spinal muscular atrophy caused by a novel Alu ‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing
ConclusionAlu‐mediated rearrangements inSMN1 can escape routine diagnostic testing. Parallel analysis ofSMN gene dosage,SMN transcripts, and total SMN protein levels in PBMC can identify genomic rearrangements and should be considered in genetically undefined SMA cases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 25, 2020 Category: Genetics & Stem Cells Authors: Ivana Jedli čková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch Tags: CLINICAL REPORT Source Type: research

The phenotype ‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
Due to extensive clinical and genetic heterogeneity of intellectual disability syndromes (ID), the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, significant fraction of ID patients remains without clinical diagnosis. Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed phenotype ‐driven bioinformatic analysis method, PhenIX, utilizing targeted next generation sequencing (NGS) data and Human Phenotype Ontology (HPO)‐encoded phenotype data. This approach re...
Source: Molecular Genetics & Genomic Medicine - April 25, 2020 Category: Genetics & Stem Cells Authors: Aleksandra Jezela ‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel Tags: ORIGINAL ARTICLE Source Type: research

Patient perspectives on variant reclassification after cancer susceptibility testing
ConclusionReclassification of genetic tests is an important issue in modern healthcare because changes in interpretation have the potential to alter previously recommended management. Participants in this study did not express strong feelings of mistrust or doubt about their genetic evaluation. However, there was a low level of comprehension and information retention related to the updated report. Future research can build on this study to improve communication with patients about their reclassified results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 23, 2020 Category: Genetics & Stem Cells Authors: Colin M. E. Halverson, Laurie M. Connors, Bronson C. Wessinger, Ellen W. Clayton, Georgia L. Wiesner Tags: ORIGINAL ARTICLE Source Type: research

Clinical performance of DNA ‐based prenatal screening using single‐nucleotide polymorphisms approach in Thai women with singleton pregnancy
Single ‐nucleotide polymorphism (SNP)‐based noninvasive prenatal screening has high positive predictive values for trisomy 21 and 18. Although the proprietary SNPs library is not population‐specific, uninformative SNPs are uncommon. AbstractBackgroundTo review the performance of noninvasive prenatal screening (NIPS) using targeted single ‐nucleotide polymorphisms (SNPs) approach in mixed‐risk Thai women.MethodsRetrospective analysis of data for detection of trisomy 21 (T21), 18 (T18), 13 (T13), monosomy X (XO), other sex chromosome aneuploidies (SCA), and triploidy/vanishing twins (VT) from a single commercial la...
Source: Molecular Genetics & Genomic Medicine - April 23, 2020 Category: Genetics & Stem Cells Authors: Tachjaree Panchalee, Naravat Poungvarin, Warisa Amornrit, Julaporn Pooliam, Pattarawalai Taluengjit, Tuangsit Wataganara Tags: ORIGINAL ARTICLE Source Type: research

CASC15 polymorphisms are correlated with cervical cancer susceptibility in Chinese women
ConclusionOur results revealed a potential interaction betweenCASC15 polymorphisms and cervical cancer susceptibility. The results provided important insights intoCASC15 function in the development of cervical cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 22, 2020 Category: Genetics & Stem Cells Authors: Ziying Gao, Zichao Xiong, Yao Sun, Jiamin Wu, Jianfeng Liu, Yuanwei Liu, Haiyue Li, Bin Li, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research