Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly
ConclusionAlthough no common genetic defect was observed in this study, we provide evidence for new avenues of investigation for ACC, such as molecular pathways involvingHERC2,CACNA1A,KCNH3, and more importantlyDCLK2. We also allowed to diagnose an individual with mucolipidosis type IV. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 2, 2019 Category: Genetics & Stem Cells Authors: Jolyane Meloche, Vanessa Brunet, Pierre ‐Alexandre Gagnon, Marie‐Ève Lavoie, Jean‐Benoît Bouchard, Javad Nadaf, Jacek Majewski, Charles Morin, Catherine Laprise Tags: CLINICAL REPORT Source Type: research

Gene ‐level genome‐wide association analysis of suicide attempt, a preliminary study in a psychiatric Mexican population
ConclusionOur outcomes revealed thatSCARA5,GHSR,RGS10 andSTK33 could be considered as risk biomarkers for suicide attempt behavior in our Mexican psychiatric sample. We recommend to perform larger scale analyses to have conclusive results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 2, 2019 Category: Genetics & Stem Cells Authors: Thelma Beatriz Gonz ález‐Castro, José Jaime Martínez‐Magaña, Carlos Alfonso Tovilla‐Zárate, Isela Esther Juárez‐Rojop, Emmanuel Sarmiento, Alma Delia Genis‐Mendoza, Humberto Nicolini Tags: ORIGINAL ARTICLE Source Type: research

Circular RNA circ ‐TSPAN4 promotes lung adenocarcinoma metastasis by upregulating ZEB1 via sponging miR‐665
ConclusionsCirc ‐TSPAN4 plays a pivotal metastasis‐promoting role in LUAD through acting as a sponge for miR‐665 and upregulatingZEB1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 1, 2019 Category: Genetics & Stem Cells Authors: Xiwang Ying, Jianwei Zhu, Yuanhui Zhang Tags: ORIGINAL ARTICLE Source Type: research

Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature
ConclusionDeletions involvingNFIX gene should be considered in patients with overgrowth during childhood, macrocephaly, developmental delay, and seizures, as well as severe intellectual disability. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 1, 2019 Category: Genetics & Stem Cells Authors: Fernanda T. Bellucco, Claudia B. Mello, Vera A. Meloni, Maria Isabel Melaragno Tags: CLINICAL REPORT Source Type: research

Population genetics of 24 Y ‐STR loci in Chinese Han population from Jilin Province, Northeast China
ConclusionOur results showed that the 24 Y ‐STR loci in Jilin Han population are valuable for forensic application and human genetics. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Xiao ‐ming Xu, Ji‐long Zheng, Yin Lou, Xiao‐han Wei, Bao‐jie Wang, Jun Yao Tags: ORIGINAL ARTICLE Source Type: research

A heterozygous point mutation of the ANKRD11 (c.2579C > T) in a Chinese patient with idiopathic short stature
ConclusionA heterozygous point mutation ofAKNRD11 gene was identified in a Chinese patient with short stature phenotype. The patient was treated effectively with GH supplementation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Yabin Kang, Dongye He, Yanying Li, Yanhong Zhang, Qian Shao, Mei Zhang, Bo Ban Tags: ORIGINAL ARTICLE Source Type: research

Noninvasive prenatal diagnosis of β‐thalassemia by relative haplotype dosage without analyzing proband
ConclusionThis research introduced SHAPEIT into the classical RHDO workflow and proved that it is applicable to construct parental haplotypes without information from other family members. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Haoxian Li, Bole Du, Fuman Jiang, Yulai Guo, Yang Wang, Chunsheng Zhang, Xiaojing Zeng, Yuhuan Xie, Shuming Ouyang, Yexing Xian, Min Chen, Weiqiang Liu, Xiaofang Sun Tags: ORIGINAL ARTICLE Source Type: research

Weighted gene coexpression network analysis identifies a new biomarker of CENPF for prediction disease prognosis and progression in nonmuscle invasive bladder cancer
ConclusionTherefore, our findings submit a new progressive and prognostic molecular marker and therapeutic target for NMIBC. Moreover, these genes that deserve to be further researched may improve the comprehension about the occurrence and development of superficial bladder cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Jiawei Shi, Pu Zhang, Lilong Liu, Xiaobo Min, Yajun Xiao Tags: ORIGINAL ARTICLE Source Type: research

Clinical value of genetic analysis in prenatal diagnosis of short femur
ConclusionsCMA yielded a higher detection value than karyotyping in fetuses with other abnormalities or a FL 2 –4 SDs below the GA mean during the second trimester. Gene sequencing should be performed when FL is>4 SDs below the mean. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Jialiu Liu, Linhuan Huang, Zhiming He, Shaobin Lin, Ye Wang, Yanmin Luo Tags: ORIGINAL ARTICLE Source Type: research

New insights into genetic variant spectrum and genotype –phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients
ConclusionSeventeen of the 40 genetic variants detected were reported for the first time in this work contributing, thus, to expand the molecular knowledge of this complex disorder. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Virginia P érez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Tags: ORIGINAL ARTICLE Source Type: research

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C > T/p.Arg118Cys: A family study
ConclusionThis is the first report that shows a link between FD renal Gb3 deposits and c.352C>T/p.Arg118Cys variant, supporting pathogenicity of a variant considered until now with uncertain pathogenicity. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Magdalena Cer ón‐Rodríguez, Guillermo Ramón‐García, Edgar Barajas‐Colón, Isidro Franco‐Álvarez, Juan L. Salgado‐Loza Tags: ORIGINAL ARTICLE Source Type: research

Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy
ConclusionsThe distribution of risk genotypes forMTHFR andTNF α‐308GA suggests their association with clinical parameters of hemophilic arthropathy. Cohort studies are essential to verify these associations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Jos é de Jesús López‐Jiménez, Ricardo Ortega‐Cervantes, Hilda Luna‐Záizar, Ana‐Lilia Fletes‐Rayas, Claudia‐Patricia Beltrán‐Miranda, Rogelio Troyo‐Sanromán, Janet Soto‐Padilla, Alberto Tlacuilo‐Parra, Ana‐Rebeca Jaloma Tags: ORIGINAL ARTICLE Source Type: research

A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X ‐linked intellectual disability type Nascimento
ConclusionUltimately, he was diagnosed with XIDTN by genetic analysis. To the best of our knowledge, this is the first case report of this syndrome in China with a confirmed molecular diagnosis. Our case not only expands the mutation spectrum ofUBE2A, but also provides additional insights into the genetic and phenotypic heterogeneity of XIDTN as well as phenotype –genotype correlations in this disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Dingyuan Ma, Jianxin Tan, Jing Zhou, Jingjing Zhang, Jian Cheng, Chunyu Luo, Gang Liu, Yuguo Wang, Zhengfeng Xu Tags: ORIGINAL ARTICLE Source Type: research

Genetics of diabetic kidney disease: A follow ‐up study in the Arab population of the United Arab Emirates
ConclusionsThis study confirms thatFTO is a multiethnic locus for DKD which is independent from any influence of BMI and/or obesity. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Wael M. Osman, Herbert F. Jelinek, Guan K. Tay, Mohamed H. Hassan, Wael Almahmeed, Ahsan H. Khandoker, Kinda Khalaf, Habiba S. Alsafar Tags: ORIGINAL ARTICLE Source Type: research

Characterization of the renal phenotype in RMND1 ‐related mitochondrial disease
ConclusionOur experience with RRMD demonstrates a specific pattern of renal disease manifestations and clinical course. Patients are unlikely to respond to traditional chronic kidney disease (CKD) treatments, making early diagnosis and consideration of renal transplantation paramount to the management of RRMD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Brian J. Shayota, Nhon T. Le, Nasim Bekheirnia, Jill A. Rosenfeld, Amy C. Goldstein, Michael Moritz, Dennis W. Bartholomew, Matthew T. Pastore, Fan Xia, Christine Eng, Yaping Yang, Dolores J. Lamb, Fernando Scaglia, Michael C. Braun, Mir Rez Tags: ORIGINAL ARTICLE Source Type: research

Breakpoint delineation in 5p ‐ patients leads to new insights about microcephaly and the typical high‐pitched cry
ConclusionWith advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype –phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat‐like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype–phenotype correlation to perform a complete clinical and molecular diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Samar N. Chehimi, Évelin A. Zanardo, José R. M. Ceroni, Amom M. Nascimento, Fabrícia A. R. Madia, Alexandre T. Dias, Gil M. N. Filho, Marília M. Montenegro, Jullian Damasceno, Thaís V. M. M. Costa, Yanca Gasparini, Chong A. Kim, Leslie D. Tags: ORIGINAL ARTICLE Source Type: research

ALU transposition induces familial hypertrophic cardiomyopathy
ConclusionOur results demonstrate that haploinsufficiency resulting fromMYBPC3 complete deletion, potentially mediated byAlu recombination, is an important disease mechanism in cardiomyopathy and emphasizes the importance of copy number variation analysis in patients clinically suspected of HCM. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan ‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Ma Tags: ORIGINAL ARTICLE Source Type: research

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant
ConclusionHT1 patients had a heterogeneous mutational and clinical spectrum and no genotype –phenotype correlation could be established. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Isabel Ibarra ‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varel Tags: ORIGINAL ARTICLE Source Type: research

Osteosarcoma without prior retinoblastoma related to RB1 low ‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?
ConclusionWe propose that first primary sarcoma and osteosarcoma could be a novel clinical presentation of aRB1‐related hereditary predisposition syndrome linked toRB1 low ‐penetrance germline mutations. In these families, careful screening of primary non‐Rb cancer and SPMs is required by maintaining enhanced clinical vigilance. Implementing lifelong periodic whole‐body MRI screening might be a complementary strategy for unaffected carrier relatives in these fam ilies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Marion Imbert ‐Bouteille, Marion Gauthier‐Villars, Dominique Leroux, Isabelle Meunier, Isabelle Aerts, Livia Lumbroso‐Le Rouic, Sophie Lejeune, Capucine Delnatte, Caroline Abadie, Pascal Pujol, Claude Houdayer, Carole Corsini Tags: ORIGINAL ARTICLE Source Type: research

The CLN3 gene and protein: What we know
ConclusionsRevisiting the experimental history of a target gene and its product ensures that inaccuracies and contradictions come to light, long ‐held beliefs and assumptions continue to be challenged, and information that was previously deemed inconsequential gets a second look. Compiling the information into one manuscript with all appropriate primary references provides quick clues to which studies have been completed under which condit ions and what information has been reported. This compendium does not seek to replace original articles or subtopic reviews but provides an historical roadmap to completed works. (Sour...
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Myriam Mirza, Anna Vainshtein, Alberto DiRonza, Uma Chandrachud, Luke J. Haslett, Michela Palmieri, Stephan Storch, Janos Groh, Niv Dobzinski, Gennaro Napolitano, Carolin Schmidtke, Danielle M. Kerkovich Tags: REVIEW ARTICLE Source Type: research

Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis
ConclusionAccess to genetic testing in OI is increasing as advances in genetic technologies decreases cost; a clinical diagnostic pathway needs to be implemented for managing variants identified by such testing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Meena Balasubramanian, Emma Hobson, Mars Skae, Janine McCaughey, David J. Stephens Tags: ORIGINAL ARTICLE Source Type: research

Association of IL ‐10‐1082A/G polymorphism with cardiovascular disease risk: Evidence from a case–control study to an updated meta‐analysis
ConclusionsIn genetic models, the association between theIL ‐10 ( −1082G/A) polymorphism and CVDs risk was significant. This meta‐analysis proposes that theIL ‐10 ( −1082G/A) polymorphism may serve as a risk factor for CVDs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 30, 2019 Category: Genetics & Stem Cells Authors: Shijuan Lu, Jianghua Zhong, Kang Huang, Honghao Zhou Tags: ORIGINAL ARTICLE Source Type: research

Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis
ConclusionOur report shows a broad spectrum of clinical features in family members sharing the identical mutations, suggesting a potential contribution of modifier gene(s) or interactions with environmental factors. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 27, 2019 Category: Genetics & Stem Cells Authors: Kaori Sugiyama, Hitoshi Horigome, Lisheng Lin, Takashi Murakami, Junko Shiono, Yoshito Yamashiro, Hiroyuki Matsuura, Hitoshi Yoda, Hiromi Yanagisawa Tags: CLINICAL REPORT Source Type: research

Hypotrichosis with juvenile macular dystrophy: Combination of whole ‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing
ConclusionWGS was able to identify a deep intronic deletion mutation, not detected by WES. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 27, 2019 Category: Genetics & Stem Cells Authors: Amir Hossein Saeidian, Hassan Vahidnezhad, Leila Youssefian, Soheila Sotudeh, Meisam Sargazi, Sirous Zeinali, Jouni Uitto Tags: ORIGINAL ARTICLE Source Type: research

Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C > T
ConclusionThe patient's clinical phenotype was consistent with ZTTK syndrome. The novel heterozygous mutation c.394C>T (p.Q132X) ofSON was its pathogenic mutation, which has not been reported at home and abroad. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 26, 2019 Category: Genetics & Stem Cells Authors: Yu Yang, Lei Xu, Zhen Yu, Hui Huang, Li Yang Tags: ORIGINAL ARTICLE Source Type: research

Association between APOE polymorphisms and lipid profile in Mexican Amerindian population
This study included 1997 MA individuals of different ethnicities distributed throughout different states of Mexico. All individuals underwent anthropometric measurements as well as laboratory tests including fasting glucose (FG), total cholesterol (TC), triglycerides, low ‐density lipoprotein cholesterol (LDL‐C), and high‐density lipoprotein cholesterol (HDL‐C). TaqMan® probe genotyping assays were used to genotypeAPOE. The Kruskal –Wallis test was performed to determine the correlation betweenAPOE gene alleles and genotypes and the biochemical variables measured.ResultsAmong the biochemical variables ana...
Source: Molecular Genetics & Genomic Medicine - September 26, 2019 Category: Genetics & Stem Cells Authors: Jos é J. Martínez‐Magaña, Alma D. Genis‐Mendoza, Carlos A. Tovilla‐Zarate, Thelma B. González‐Castro, Isela Esther Juárez-Rojop, Yazmín Hernández‐Díaz, Angélica G. Martinez‐Hernandez, Humberto Garcia‐Ortíz, Lorena Orozco, Tags: ORIGINAL ARTICLE Source Type: research

Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review
ConclusionThe p.L164P mutation ofKRT9 caused EPPK with a novel symptom of palmar constriction. The expression of multiple cytokeratins was altered in EPPK patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 16, 2019 Category: Genetics & Stem Cells Authors: Xiaoliang Liu, Chuang Qiu, Rong He, Yuanyuan Zhang, Yanyan Zhao Tags: ORIGINAL ARTICLE Source Type: research

Metformin treatment in young children with fragile X syndrome
ConclusionThese results support the need for a controlled trial of metformin in children with FXS under 7  years old whose brains are in a critical developmental window and thus may experience a greater degree of clinical benefit from metformin. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 14, 2019 Category: Genetics & Stem Cells Authors: Hazel Maridith B. Biag, Laura A. Potter, Victoria Wilkins, Sumra Afzal, Alexis Rosvall, Maria Jimena Salcedo ‐Arellano, Akash Rajaratnam, Ramiro Manzano‐Nunez, Andrea Schneider, Flora Tassone, Susan M. Rivera, Randi J. Hagerman Tags: ORIGINAL ARTICLE Source Type: research

High expression of PRKDC promotes breast cancer cell growth via p38 MAPK signaling and is associated with poor survival
ConclusionTogether, our results suggest that high expression ofPRKDC facilitates breast cancer cell growth via regulation of p38 MAPK signaling, and is a prognostic marker for poor survival in breast cancer patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 12, 2019 Category: Genetics & Stem Cells Authors: Yan Zhang, Wei ‐kang Yang, Guo‐ming Wen, Hongping Tang, Chuan‐an Wu, Yan‐xia Wu, Zhi‐liang Jing, Min‐shan Tang, Guang‐long Liu, Da‐zhou Li, Yan‐hua Li, Yong‐Jian Deng Tags: ORIGINAL ARTICLE Source Type: research

Glycogen storage diseases: Twenty ‐seven new variants in a cohort of 125 patients
ConclusionsThe study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 11, 2019 Category: Genetics & Stem Cells Authors: Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eug ênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz Tags: ORIGINAL ARTICLE Source Type: research

Rett and Rett ‐like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene
ConclusionsIt is the first time that pathogenic variants ofGRIN1 andKIF1A were linked to RTT and Rett ‐like profiles. Our findings expanded the genetic heterogeneity of Chinese RTT or Rett‐like patients, and also suggest that some patients with genetic metabolic disease such as NCL, might displayed Rett features initially, and clinical follow‐up is essential for the diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 11, 2019 Category: Genetics & Stem Cells Authors: Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao Tags: ORIGINAL ARTICLE Source Type: research

A rare case of acquired immunodeficiency associated with myelodysplastic syndrome
ConclusionThe hematological phenotype, somatic genomic instability, and response to HSCT MAC but not HSCT RIC deduced to a diagnosis of MDS type refractory cytopenia of children in this patient. His immunodeficiency was secondary to MDS due to somatic acquisition of homozygosity for known pathogenicRAG1 mutation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 10, 2019 Category: Genetics & Stem Cells Authors: Juanjuan Li, Junhui Li, Jianguo Li, Hailan Yao, Fang Liu, James F Gusella, Xiaodong Shi, Xiaoli Chen Tags: ORIGINAL ARTICLE Source Type: research

The genetic polymorphisms of ZC3HC1 and SMARCA4 are associated with hypertension risk
ConclusionThe present study suggested thatZC3HC1 andSMARCA4 polymorphism may conducive to play a protective role against the hypertension risk. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 10, 2019 Category: Genetics & Stem Cells Authors: Huijun Ma, Yongjun He, Mei Bai, Linhao Zhu, Xue He, Li Wang, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research

Analysis of miRNA ‐mRNA regulatory network revealed key genes induced by aflatoxin B1 exposure in primary human hepatocytes
ConclusionsIn conclusion, miRNA ‐mRNA regulatory network was established, which will help to understand the mechanism underlying the AFB1‐induced onset of HCC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 9, 2019 Category: Genetics & Stem Cells Authors: Ziyang Zhang, Dongyang Tang, Bin Wang, Zhiwei Wang, Mingjiu Liu Tags: ORIGINAL ARTICLE Source Type: research

Cover
The cover image is based on the Original ArticleMolecular investigation in Chinese patients with primary carnitine deficiency by Yanghui Zhang et al.,https://doi.org/10.1002/mgg3.901. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 8, 2019 Category: Genetics & Stem Cells Authors: Yanghui Zhang, Haoxian Li, Jing Liu, Huiming Yan, Qin Liu, Xianda Wei, Hui Xi, Zhengjun Jia, Lingqian Wu, Hua Wang Tags: COVER Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 9, September 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 8, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Effects of CDKN2B ‐AS1 polymorphisms on the susceptibility to coronary heart disease
CDKN2B ‐AS1 polymorphisms were associated with coronary heart disease (CHD) in the combined or subgroup tests, suggesting an important role ofCDKN2B ‐AS1 in CHD susceptibility. AbstractBackgroundCoronary heart disease (CHD) is one of the most severe cardiovascular diseases.Cyclin ‐dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B ‐AS1) is a significant susceptibility locus for cardiovascular disease by regulating inflammation response and cell cycle. The aim of this study was to assess whetherCDKN2B ‐AS1 polymorphisms are associated with CHD risk in the Chinese Han population.MethodsA total of 501 CHD patient...
Source: Molecular Genetics & Genomic Medicine - September 8, 2019 Category: Genetics & Stem Cells Authors: Kang Huang, Jianghua Zhong, Qiang Li, Wei Zhang, Zibin Chen, Yilei Zhou, Miao Wu, Zanrui Zhong, Shijuan Lu, Shufang Zhang Tags: ORIGINAL ARTICLE Source Type: research

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
ConclusionThis homozygous missense variant in BMPR1A appears to cause a distinct clinical phenotype. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 7, 2019 Category: Genetics & Stem Cells Authors: Bianca E. Russell, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al ‐Gazali, Robert J Hopkin, Howard M. Saal, Karen Lyons, Andrew Dauber Tags: ORIGINAL ARTICLE Source Type: research

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations
ConclusionOur observation and the review of the literature reported the possibility of very weak mosaicism and disease ‐causing confined tissue‐specific mosaicism in fetus or alive patients with chromosome 21 aneuploidy, mainly Down syndrome. In case of clinical diagnosis suggestive of Down syndrome, attention must be paid to the risk of false‐negative test due to chromosomal mosaicism (very weak percentage, d ifferent tissue distribution). To overcome this risk, it is necessary to privilege the diagnostic techniques without culture step and to increase the number of cells and tissues analyzed, if possible. This stud...
Source: Molecular Genetics & Genomic Medicine - September 7, 2019 Category: Genetics & Stem Cells Authors: Vincent Gatinois, Nicole Bigi, Eve Mousty, Jean Chiesa, Yuri Musizzano, Anouck Schneider, Genevi ève Lefort, Lucile Pinson, Jean‐Baptiste Gaillard, Clémence Ragon, Marie‐Josée Perez, Magali Tournaire, Patricia Blanchet, Carole Corsini, Tags: ORIGINAL ARTICLE Source Type: research

Docking ‐based approach for identification of mutations that disrupt binding between Bcl‐2 and Bax proteins: Inducing apoptosis in cancer cells
ConclusionSeveral methods like PolyPhen ‐2, SIFT, and OncoKB have been developed to predict cancer‐associated or deleterious mutations, but no method is available to predict apoptosis‐inducing mutations. Thus, in this study, we have examined the mutations in Bcl‐2 and Bax proteins that disrupt their binding, which is crucial for i nducing apoptosis to eradicate cancer. This study suggests that protein–protein docking methods can play a significant role in the identification of hotspot mutations in Bcl‐2 or Bax that can disrupt their binding with wild‐type partner to induce apoptosis in cancer cells. (Sour...
Source: Molecular Genetics & Genomic Medicine - September 6, 2019 Category: Genetics & Stem Cells Authors: Pawan Kumar Raghav, Rajesh Kumar, Vinod Kumar, Gajendra P. S. Raghava Tags: ORIGINAL ARTICLE Source Type: research

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy
ConclusionPathogenic variants inTTN may be an unrecognized cause of skeletal myopathy phenotypes, particularly when accompanied by dilated cardiomyopathy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 5, 2019 Category: Genetics & Stem Cells Authors: Jennifer Roggenbuck, Kelly Rich, Ana Morales, Christopher A. Tan, Douglas Eck, Wendy King, Matteo Vatta, Thomas Winder, Bakri Elsheikh, Ray E. Hershberger, John T. Kissel Tags: CLINICAL REPORT Source Type: research

Association between ACYP2 polymorphisms and the risk of renal cell cancer
ConclusionIn summary, the results suggested thatACYP2 polymorphisms could be used as a genetic marker for RCC. Additional functional and association studies are required to validate our results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 5, 2019 Category: Genetics & Stem Cells Authors: Yuhe Wang, Yongtong Zhang, Yao Sun, Jiamin Wu, Junke Chang, Zichao Xiong, Fanglin Niu, Shanzhi Gu, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research

LRRK2 N551K and R1398H variants are protective in Malays and Chinese in Malaysia: A case –control association study for Parkinson's disease
ConclusionThis study reports that the N551K ‐R1398H haplotype is also relevant to the Malaysian population, with a significant protective effect found in those of Malay and Chinese ancestries. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 5, 2019 Category: Genetics & Stem Cells Authors: Aroma Agape Gopalai, Jia Lun Lim, Hui ‐Hua Li, Yi Zhao, Thien Thien Lim, Gaik B. Eow, Santhi Puvanarajah, Shanthi Viswanathan, Mohamed Ibrahim Norlinah, Zariah Abdul Aziz, Soo Kun Lim, Chong Tin Tan, Ai Huey Tan, Shen‐Yang Lim, Eng‐Kin Tags: ORIGINAL ARTICLE Source Type: research

MtDNA polymorphism analyses in the Chinese Mongolian group: Efficiency evaluation and further matrilineal genetic structure exploration
ConclusionIt was indicated that the panel was potentially enough to be used as a supplementary tool for forensic applications. And the matrilineal genetic structure analyses based on mitochondrial DNA variants in the Xinjiang Mongolian group could be helpful for subsequent anthropological studies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 3, 2019 Category: Genetics & Stem Cells Authors: Qiong Lan, Tong Xie, Xiaoye Jin, Yating Fang, Shuyan Mei, Guang Yang, Bofeng Zhu Tags: ORIGINAL ARTICLE Source Type: research

Whole ‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness
ConclusionThis is the first study to report aSMPX (DFNX4) splicing variant in a Chinese family. These findings, especially congenital deafness, contributed to existing knowledge regarding the genotypic and phenotypic spectrum ofSMPX‐associated hearing loss. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 3, 2019 Category: Genetics & Stem Cells Authors: Yuan Lv, Jia Gu, Hao Qiu, Huan Li, Zhitao Zhang, Shaowei Yin, Yan Mao, Lingyin Kong, Bo Liang, Hongkun Jiang, Caixia Liu Tags: CLINICAL REPORT Source Type: research

Whole ‐exome sequencing provides insights into monogenic disease prevalence in Northwest Russia
ConclusionOur observations demonstrate the utility of population ‐specific allele frequency data to the diagnosis of monogenic disorders using high‐throughput technologies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 3, 2019 Category: Genetics & Stem Cells Authors: Yury A. Barbitoff, Rostislav K. Skitchenko, Olga I. Poleshchuk, Anton E. Shikov, Elena A. Serebryakova, Yulia A. Nasykhova, Dmitrii E. Polev, Anna R. Shuvalova, Irina V. Shcherbakova, Mikhail A. Fedyakov, Oleg S. Glotov, Andrey S. Glotov, Alex Tags: ORIGINAL ARTICLE Source Type: research

CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia
ConclusionTo our knowledge, this is the first systematic study of Chinese children withCASQ2 variants. Our work further expands the genetic spectrum ofCASQ2‐associated CPVT. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 3, 2019 Category: Genetics & Stem Cells Authors: Qirui Li, Ruolan Guo, Lu Gao, Lang Cui, Zhihui Zhao, Xia Yu, Yue Yuan, Xiwei Xu Tags: ORIGINAL ARTICLE Source Type: research

The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication
ConclusionDespite care in a specialized cardiovascular genetics clinic, approximately one half of FDRs of patients with HCM remained unscreened. Online interventions and videos may serve as supplemental tools for patients communicating genetic risk information to relatives. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 3, 2019 Category: Genetics & Stem Cells Authors: Stephanie Harris, Allison L. Cirino, Christina W. Carr, Hiwot M. Tafessu, Siddharth Parmar, Jeffrey O. Greenberg, Lara E. Szent ‐Gyorgyi, Roya Ghazinouri, Michelle G. Glowny, Kara McNeil, Efthalia F. Kaynor, Catherine Neumann, Christine E. S Tags: ORIGINAL ARTICLE Source Type: research

Association study between the polymorphisms of angiogenesis ‐related genes and cervical cancer susceptibility in Chinese Uygur population
ConclusionOur study firstly provided evidence that rs4604006 and rs12646659 ofVEGF ‐C gene were related to the susceptibility of cervical cancer in Chinese Uygur population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 2, 2019 Category: Genetics & Stem Cells Authors: Lili Han, Sulaiya Husaiyin, Chunhua Ma, Mayinuer Niyazi Tags: ORIGINAL ARTICLE Source Type: research

Inverted duplication, triplication and quintuplication through sequential breakage ‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion
ConclusionThis is the first case reported in POC with a unique mosaic pattern and discordant chromosome and aCGH results. Caution should be applied in reporting and interpreting these discordant results and further analysis for underlying mechanism should be considered. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - September 2, 2019 Category: Genetics & Stem Cells Authors: Hongyan Chai, Brittany Grommisch, Autumn DiAdamo, Jiadi Wen, Pei Hui, Peining Li Tags: ORIGINAL ARTICLE Source Type: research