Co ‐occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades
ConclusionOur study provides supporting evidence that mild expansions ofATXN2may have modifying effects on SCA3 phenotype. Larger control series and longitudinal data are warranted to confirm our results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 28, 2019 Category: Genetics & Stem Cells Authors: Chao Wu, Qiong Cai, Huajing You, Xiangxue Zhou, Dingbang Chen, Guiling Mo, Xunhua Li Tags: ORIGINAL ARTICLE Source Type: research

Mutations in the mitochondrial tryptophanyl ‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy
ConclusionsOur results establish the identifiedWARS2 variants as disease ‐causing and highlight the benefit of including human neuronal models, when investigating mutations specifically affecting the nervous system. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 28, 2019 Category: Genetics & Stem Cells Authors: Camilla Maffezzini, Isabelle Laine, Cristina Dallabona, Paula Clemente, Javier Calvo ‐Garrido, Rolf Wibom, Karin Naess, Michela Barbaro, Anna Falk, Claudia Donnini, Christoph Freyer, Anna Wredenberg, Anna Wedell Tags: ORIGINAL ARTICLE Source Type: research

Effect of a session of intensive exercise with ginseng supplementation on histone H3 protein methylation of skeletal muscle of nonathlete men
ConclusionThe methylation caused by intense physical pressure, can be reduced by ginseng extract. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 28, 2019 Category: Genetics & Stem Cells Authors: Ali akbar Naghavi moghadam, Mostafa Shiravand, Sadegh Rezapour, Alireza Khoshdel, Behzad Bazgir, Mahnaz Mardani Tags: ORIGINAL ARTICLE Source Type: research

A case study of atypical Larsen syndrome with absent hallmark joint dislocations
ConclusionThis is a highly unusual presentation of Larsen syndrome in which the identifying hallmark trait is absent in the patients ’ phenotypes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 27, 2019 Category: Genetics & Stem Cells Authors: Neslida Kodra, Callie Diamonstein, Natalie S. Hauser Tags: CLINICAL REPORT Source Type: research

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype
ConclusionAnEPCAM deletion was the causative variant in about 2% of our institutional series of 224 LS patients, consistent with previously estimated frequencies. Early age and multiple CRCs was the main clinical feature of this subset of patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 27, 2019 Category: Genetics & Stem Cells Authors: Giulia Cini, Michele Quaia, Vincenzo Canzonieri, Mara Fornasarig, Roberta Maestro, Alberto Morabito, Angela Valentina D'Elia, Emanuele Damiano Urso, Isabella Mammi, Alessandra Viel Tags: ORIGINAL ARTICLE Source Type: research

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation
We report on an 18 ‐year‐old boy with a profound growth retardation (
Source: Molecular Genetics & Genomic Medicine - March 27, 2019 Category: Genetics & Stem Cells Authors: Emanuela Ponzi, Viola Alesi, Francesca R. Lepri, Silvia Genovese, Sara Loddo, Mafalda Mucciolo, Antonio Novelli, Carlo Dionisi ‐Vici, Arianna Maiorana Tags: CLINICAL REPORT Source Type: research

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype ‐phenotype correlations
ConclusionThis case expands the spectrum ofABCA12 reported disease ‐causing variants which is important to unravel genotype‐phenotype correlations and highlights the importance of missense variants in the development of HI. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 27, 2019 Category: Genetics & Stem Cells Authors: Martha Montalv án‐Suárez, Uxia Saraiva Esperón‐Moldes, Laura Rodríguez‐Pazos, Andrés Ordóñez‐Ugalde, Fernanda Moscoso, Nora Ugalde‐Noritz, Luis Santomé, Laura Fachal, Daniel Tettamanti‐Miranda, Juan Carlos Ruiz, Manuel Ginart Tags: ORIGINAL ARTICLE Source Type: research

Functional analysis of haplotypes and promoter activity at the 5 ′ region of the human GABRB3 gene and associations with schizophrenia
ConclusionWe demonstrated that haplotype C ‐A might increase the risk of schizophrenia and found multiple regulatory regions that had an effect onGABRB3 receptor expression. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 25, 2019 Category: Genetics & Stem Cells Authors: Yi Liu, Mei Ding, Yong ‐ping Liu, Xi‐cen Zhang, Jia‐xin Xing, Jin‐feng Xuan, Xi Xia, Jun Yao, Bao‐jie Wang Tags: ORIGINAL ARTICLE Source Type: research

Polymorphism of MTHFR 1298A > C in relation to adverse pregnancy outcomes in Chinese populations
ConclusionIn summary, our data showed thatMTHFR1298C/C genotype was one of the important genetic factors of APO in China. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 22, 2019 Category: Genetics & Stem Cells Authors: Hui Mo, Meng Rao, Gang Wang, Yan ‐Xi Long, Hua‐Wei Wang, Li Tang Tags: ORIGINAL ARTICLE Source Type: research

Clinical validity assessment of genes for inclusion in multi ‐gene panel testing: A systematic approach
ConclusionThese results demonstrate the importance of a standardized, evidence ‐based vetting process to establish CV for genes on MGPTs. Using our proposed system may help to increase the detection rate while mitigating higher VUS rates. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 21, 2019 Category: Genetics & Stem Cells Authors: Tricia N. Zion, Bess Wayburn, Sourat Darabi, Devon Lamb Thrush, Erica D. Smith, Tami Johnston, Brissa Martin, Kelly D. F. Hagman, Melissa Parra, Christian Antolik Tags: ORIGINAL ARTICLE Source Type: research

Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
ConclusionSulfite inhibition of mitochondrial metabolism could be responsible for the ischemic lesions described in patients with MoCD or alternatively could predispose the brain to suffer an ischemic damage through the action of other insults, for instance intercurrent illness. It is possible that sulfite accumulation together with other external triggers, can lead to neurological deterioration even in adulthood. The role of other factors involved in clinical expression should be investigated to establish the reason for phenotypic variability in patients with the same mutation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 21, 2019 Category: Genetics & Stem Cells Authors: Barbara Scelsa, Serena Gasperini, Andrea Righini, Maria Iascone, Valeria G. Brazzoduro, Pierangelo Veggiotti Tags: ORIGINAL ARTICLE Source Type: research

Influence of IL ‐1R2 polymorphisms on endometrial cancer susceptibility in the Chinese Han population
ConclusionsThese findings suggested thatIL ‐1R2polymorphisms may contribute to the development of endometrial cancer. Further studies are required to confirm the results. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 20, 2019 Category: Genetics & Stem Cells Authors: Jiamin Wu, Wenjie Zhang, Junhong Cai, Sizhe Huang, Fanglin Niu, Ying Zhang, Shan Bao, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research

Association between IL ‐1R2 polymorphisms and lung cancer risk in the Chinese Han population: A case–control study
ConclusionsOur results suggest that genetic variants ofIL ‐1R2 may play a role in lung cancer susceptibility. Further population and functional validations of our findings are warranted. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 20, 2019 Category: Genetics & Stem Cells Authors: Chaoying Wang, Chengsheng Zhang, Junnv Xu, Yongfu Li, Jie Wang, Hui Liu, Yueli Liu, Zhong Chen, Haifeng Lin Tags: ORIGINAL ARTICLE Source Type: research

IGNITE network: Response of patients to genomic medicine interventions
ConclusionOur findings demonstrate the feasibility of this approach and identified a few key themes which are as follows: age was consistently significant across the three outcomes, whereas race had less of an impact than expected. However, these are only associations and thus warrant further study. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 20, 2019 Category: Genetics & Stem Cells Authors: Lori A. Orlando, Corrine Voils, Carol R. Horowitz, Rachel A. Myers, Meghan J. Arwood, Emily J. Cicali, Caitrin W. McDonough, Toni I. Pollin, Yue Guan, Kenneth D. Levy, Andrea Ramirez, Alexandra Quittner, Ebony B. Madden Tags: ORIGINAL ARTICLE Source Type: research

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies
ConclusionOur study allowed the expansion of the clinical spectrum of mosaic RASopathies and supports that mosaicism for recurrent mutations inKRASandFGFR1is a commonly involved mechanism in these rare oculocutaneous anomalies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 19, 2019 Category: Genetics & Stem Cells Authors: Oscar F. Chacon ‐Camacho, Daniel Lopez‐Moreno, Martha A. Morales‐Sanchez, Enriqueta Hofmann, Michelle Pacheco‐Quito, Ilse Wieland, Vianney Cortes‐Gonzalez, Cristina Villanueva‐Mendoza, Martin Zenker, Juan Carlos Zenteno Tags: ORIGINAL ARTICLE Source Type: research

Sodium butyrate and panobinostat induce apoptosis of chronic myeloid leukemia cells via multiple pathways
ConclusionThe combination of HDACI and other therapeutic strategies are likely required to overcome drug resistance in CML therapy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 19, 2019 Category: Genetics & Stem Cells Authors: Xiaoyuan Jia, Yinsuo Zheng, Yanzi Guo, Kan Chen Tags: ORIGINAL ARTICLE Source Type: research

Three novel MTM1 pathogenic variants identified in Japanese patients with X ‐linked myotubular myopathy
ConclusionsAll variants were assessed as “Class 4 (likely pathogenic)” on the basis of the guideline of American College of Medical Genetics and Genomics. These distinct pathological features among the patients with variants in the second cluster of PTP domain inMTM1 provides an insight into microheterogeneities in disease phenotypes in XLMTM. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2019 Category: Genetics & Stem Cells Authors: Atsuko Nishikawa, Aritoshi Iida, Shinichiro Hayashi, Mariko Okubo, Yasushi Oya, Gaku Yamanaka, Ikuko Takahashi, Ikuya Nonaka, Satoru Noguchi, Ichizo Nishino Tags: CLINICAL REPORT Source Type: research

Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X ‐linked Alport syndrome
In this study, three children showed coexisting pathogenic variants inCOL4A5 andCOL4A3. Two children showed pathogenic variants inCOL4A5 andCOL4A4. One child had pathogenic variants in the threeCOL4A3 ‐5 genes, in which the pathogenic variant inCOL4A5 was de novo and the pathogenic variants inCOL4A4 andCOL4A3 were inherited independently (in trans). The site and type of mutations inCOL4A5were similar between the two groups. It was revealed that males in group 1 presented more severe proteinuria than males in group 2 (p  
Source: Molecular Genetics & Genomic Medicine - March 18, 2019 Category: Genetics & Stem Cells Authors: Yanqin Zhang, Jie Ding, Hongwen Zhang, Yong Yao, Huijie Xiao, Suxia Wang, Fang Wang Tags: ORIGINAL ARTICLE Source Type: research

IRS1 ‐ rs10498210 G/A and CCR5‐59029 A/G polymorphisms in patients with type 2 diabetes in Kurdistan
ConclusionAccording to the results of this study, the presence of AA genotype in bothCCR5 andIRS1 is associated with type 2 diabetes. There was no significant association between AG or GG genotypes with type 2 diabetes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2019 Category: Genetics & Stem Cells Authors: Fatemeh Keshavarzi, Shadi Golsheh Tags: ORIGINAL ARTICLE Source Type: research

Association study between genetic polymorphisms in folate metabolism and gastric cancer susceptibility in Chinese Han population: A case –control study
ConclusionThis study suggested that MTR andMTHFRpolymorphisms may contribute to increase the risk of GC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2019 Category: Genetics & Stem Cells Authors: Lusha Wei, Fanglin Niu, Jiamin Wu, Fulin Chen, Hua Yang, Jing Li, Tianbo Jin, Yifei Wu Tags: ORIGINAL ARTICLE Source Type: research

Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
ConclusionThese findings will assist in the diagnosis of WD. The novel variants have enriched the WD database. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 18, 2019 Category: Genetics & Stem Cells Authors: Zhiling Qian, Xiongwei Cui, Yunli Huang, Yanmin Liu, Ning Li, Sujun Zheng, Jun Jiang, Shichang Cui Tags: CLINICAL REPORT Source Type: research

Cover
The cover image based on Original ArticleIdentification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites by Christine C. Bruels, DOI:10.1002/mgg3.552. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 15, 2019 Category: Genetics & Stem Cells Authors: Christine C. Bruels, Chengcheng Li, Tonatiuh Mendoza, Jamillah Khan, Hemakumar M. Reddy, Elicia A. Estrella, Partha S. Ghosh, Basil T. Darras, Hart G. W. Lidov, Christina A. Pacak, Louis M. Kunkel, Fran çois Modave, Isabelle Draper, Peter B. Tags: COVER Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 3, March 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 15, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

MTHFR C677T polymorphism analysis: A simple, effective restriction enzyme ‐based method improving previous protocols
ConclusionOur original PCR ‐RFLP strategy, specifically designed to make the analysis optimal with respect to PCR primers and gel analysis, fits the ideal criteria compared to the widely used strategy by Frosst et al (1995) as well as any other PCR‐RFLP strategies proposed forMTHFR C677T polymorphism genotyping to date. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 13, 2019 Category: Genetics & Stem Cells Authors: Francesca Antonaros, Giulia Olivucci, Elena Cicchini, Giuseppe Ramacieri, Maria Chiara Pelleri, Lorenza Vitale, Pierluigi Strippoli, Chiara Locatelli, Guido Cocchi, Allison Piovesan, Maria Caracausi Tags: ORIGINAL ARTICLE Source Type: research

Occurrence of CYP2B6 516G > T polymorphism in patients with ARV ‐associated hepatotoxicity
ConclusionsNo significant association was detected betweenCYP2B6 516G>T polymorphism and susceptibility to ARV ‐associated hepatotoxicity. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 12, 2019 Category: Genetics & Stem Cells Authors: HariOm Singh, Sonam Lata, T. N. Dhole, Raman R. Gangakhedkar Tags: ORIGINAL ARTICLE Source Type: research

A prenatally diagnosed case of Meckel –Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene
ConclusionsMeckel –Gruber syndrome is a very heterogeneous syndrome in terms of the associated causal genes. In the first‐line diagnosis, we used an next‐generation sequencing (NGS)‐based large gene panel, but only 10 MKS genes were available on the platform used. In the case of prenatal ultrasound findings t hat are highly suggestive of MKS and a negative NGS MKS gene panel, WES should also be performed to not miss rare gene associations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 9, 2019 Category: Genetics & Stem Cells Authors: Konstantin Ridn õi, Marek Šois, Eve Vaidla, Sander Pajusalu, Larissa Kelder, Tiia Reimand, Katrin Õunap Tags: CLINICAL REPORT Source Type: research

Correlation between MTHFR polymorphisms and glaucoma: A meta ‐analysis
ConclusionOur findings indicated that rs1801131 and rs1801133 polymorphisms may serve as genetic biomarkers of glaucoma in West Asians. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 9, 2019 Category: Genetics & Stem Cells Authors: Ling Zhang, Bin Chen Tags: ORIGINAL ARTICLE Source Type: research

A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm
ConclusionIn conclusion, we identified a novelSMAD6 variant causing a severely calcified BAV and TAA, which contributes to our understanding of the clinical and genetic background ofSMAD6‐related BAV. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 8, 2019 Category: Genetics & Stem Cells Authors: Jong Eun Park, Jin Seok Park, Shin Yi Jang, Seok Hee Park, Jong ‐Won Kim, Chang‐Seok Ki, Duk‐Kyung Kim Tags: ORIGINAL ARTICLE Source Type: research

Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses
Ocular complications with significant reduction in visual acuity are common in MPS patients. Diagnostic problems may arise in these patients with severe corneal opacification, especially for those with MPS VI and MPS I. AbstractBackgroundMucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in various tissues and organs. Ocular problems that affect the cornea, trabecular meshwork, sclera, retina, and optic nerve are very common in these patients. However, there was limited literature focusing on comprehensive ocular findings in different types o...
Source: Molecular Genetics & Genomic Medicine - March 8, 2019 Category: Genetics & Stem Cells Authors: Hsiang ‐Yu Lin, Wei‐Chun Chan, Lee‐Jen Chen, Yuan‐Chieh Lee, Shu‐I Yeh, Dau‐Ming Niu, Pao Chin Chiu, Wen‐Hui Tsai, Wuh‐Liang Hwu, Chih‐Kuang Chuang, Shuan‐Pei Lin Tags: ORIGINAL ARTICLE Source Type: research

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas
ConclusionOur data support the correlation of the p.Arg1038Gly missense substitution with the cutaneous phenotype without neurofibromas or other complications. This finding may have relevant implications for patients and genetic counseling, but also to get insights into the function of neurofibromin. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 6, 2019 Category: Genetics & Stem Cells Authors: Eva Trevisson, Valeria Morbidoni, Monica Forzan, Cecilia Daolio, Valentina Fumini, Raffaele Parrozzani, Matteo Cassina, Edoardo Midena, Leonardo Salviati, Maurizio Clementi Tags: ORIGINAL ARTICLE Source Type: research

Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families
ConclusionsEightFBN1 mutations were identified in Chinese families with MFS and related disorder. These data expandsFBN1mutation spectrum and further emphasizes the role ofFBN1 in the pathogenesis of MFS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2019 Category: Genetics & Stem Cells Authors: Bo Gong, Lan Yang, Qingwei Wang, Zimeng Ye, Xiaoxin Guo, Chen Yang, Fang Hao, Yi Shi, Yi Huang, Chao Qu, Zhenglin Yang Tags: ORIGINAL ARTICLE Source Type: research

Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening
ConclusionsFamilies and adults living with hemophilia are more supportive of screening for information and preparation purposes than to prevent boys with hemophilia from being born. A distinction was made between preventing the disease and preventing the lives of people with it, with support shown for the use of screening to achieve the former, but not at the expense of the latter. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2019 Category: Genetics & Stem Cells Authors: Felicity K. Boardman, Rachel Hale, Raksha Gohel, Philip J. Young Tags: ORIGINAL ARTICLE Source Type: research

Association between ADIPOQ G276T and C11377G polymorphisms and the risk of non ‐alcoholic fatty liver disease: An updated meta‐analysis
ConclusionADIPOQ gene −11377C>G may be a risk factor for NAFLD, while there was no association betweenADIPOQ gene +276G>T polymorphism and the risk of NAFLD. Further studies are needed to detect the relationship between theseADIPOQ polymorphisms and NAFLD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2019 Category: Genetics & Stem Cells Authors: Mengwei Liu, Shan Liu, Mengke Shang, Xiuping Liu, Yue Wang, Qian Li, Michael Mambiya, Luping Yang, Qian Zhang, Kaili Zhang, Fangfang Nie, Fanxin Zeng, Wanyang Liu Tags: ORIGINAL ARTICLE Source Type: research

Association of NKX2 ‐5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children
ConclusionsSignificantly higher frequency of different allelle of five variants was observed in cases when compared to the control group, with significant risky effect for the development of septal defect. In addition to two polymorphisms ofNKX2 ‐5 (rs2277923, rs28936670)variant in the cardiac septal defect, two variants inGATA4 (rs368418329, rs56166237) and one variant inTBX5 (rs6489957) seem to have a role in the pathogenesis of congenital heart disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2019 Category: Genetics & Stem Cells Authors: Eman G. Behiry, Mahmoud A. Al ‐Azzouny, Dina Sabry, Ola G. Behairy, Nessrine E. Salem Tags: ORIGINAL ARTICLE Source Type: research

Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female
ConclusionThe major inhibitory neurotransmitter, γ‐aminobutyric acid (GABA), is increased in SSADHD but normal in RTT, although there are likely regional changes in GABA receptor distribution. GABAergic anomalies occur in both disorders, each featuring an autism spectrum phenotype. What effect the SSADHD biochemical anomalies (elevated GABA, GH B) might play in the neurodevelopmental/epileptic phenotype of our patient is currently unknown. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2019 Category: Genetics & Stem Cells Authors: Madalyn Brown, Paula Ashcraft, Erland Arning, Teodoro Bottiglieri, William McClintock, Frank Giancola, David Lieberman, Natalie S. Hauser, Rebecca Miller, Jean ‐Baptiste Roullet, Phillip Pearl, K. Michael Gibson Tags: ORIGINAL ARTICLE Source Type: research

COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I
ConclusionThe sequence variant may be a disease ‐causing factor resulting in abnormal type I procollagen synthesis and leading to OI type I. This finding has significant implications for genetic counseling and clinical monitoring of high‐risk families and may be helpful for understanding pathogenic mechanism of OI and developing therapies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2019 Category: Genetics & Stem Cells Authors: Mingyuan Wang, Yi Guo, Pengfei Rong, Hongbo Xu, Lina Gong, Hao Deng, Lamei Yuan Tags: ORIGINAL ARTICLE Source Type: research

CDK6 3'UTR polymorphisms alter the susceptibility to cervical cancer among Uyghur females
CDK6 is involved in the pathogenesis of cervical cancer. CDK6 variants reduce the susceptibility to cervical cancer in Uyghur females. Rs8179, rs42032 and rs42033 are new markers for cervical cancer early assessment. AbstractAimsCyclin dependent kinase 6 (CDK6) plays a crucial role in malignant tumor whereas less is reported in cervical cancer development. The aim of this study was to evaluate the effects ofCDK6 3' untranslated region (3'UTR) polymorphisms on cervical cancer susceptibility among Uyghur females.MethodsThe genotypes of the sixCDK6 variants (rs8179, rs42032, rs42033, rs42034, rs42035, and rs42038) were identi...
Source: Molecular Genetics & Genomic Medicine - March 4, 2019 Category: Genetics & Stem Cells Authors: Kailibinuer Aierken, Zhihong Dong, Tangnuer Abulimiti, Yuanyuan Zhang, Guzhalinuer Abuduxikuer, Gulixian Tuerxun, Guligeina Abudurexiti, Aziguli Maimaitiaishan, Patiman Mijiti, Guzhalinuer Abulizi Tags: ORIGINAL ARTICLE Source Type: research

Genetics of IL6 polymorphisms: Case –control study of the risk of endometrial cancer
ConclusionThis study demonstrated thatIL6 gene polymorphisms are significantly associated with increased EC susceptibility in Hainan Chinese Han women. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 3, 2019 Category: Genetics & Stem Cells Authors: Junhong Cai, Kaiying Cui, Fanglin Niu, Tianbo Jin, Sizhe Huang, Ying Zhang, Shan Bao Tags: ORIGINAL ARTICLE Source Type: research

Genotype ‐phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil
ConclusionThe high discordance rate between genotype ‐predicted and observed metabolic phenotypes in this study seems to be due partially to the high frequency of the so‐called “moderate” common mutations, p.R261Q, p.V388M, and p.I65T, which are reported to be associated to erratic or more severe than expected metabolic phenotypes. Although ou r results of BH4 estimated responsiveness must be regarded as tentative, it should be emphasized that genotyping and genotype ‐phenotype association studies are important in selecting patients to be offered a BH4 overload test, especially in low ‐resource settings...
Source: Molecular Genetics & Genomic Medicine - March 3, 2019 Category: Genetics & Stem Cells Authors: Eduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, Isaura Ribeiro, Alexandre Seabra, Nicole Mineiro, Lilian M. Carvalho, L úcia Lacerda, Márcia G. Ribeiro Tags: ORIGINAL ARTICLE Source Type: research

Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps
ConclusionThis study confirms the low frequency of causal variants in these genes in the predisposition for multiple colorectal polyps, and also establishes that these genes are a rare cause of the disease. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 2, 2019 Category: Genetics & Stem Cells Authors: Fadwa A. Elsayed, Carli M. J. Tops, Maartje Nielsen, Dina Ruano, Hans F. A. Vasen, Hans Morreau, Frederik J. Hes, Tom van Wezel Tags: ORIGINAL ARTICLE Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 2, February 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Genetics and genomic medicine in Iran
Attention has been focused on the field of genetics and genomics in Iran in recent years and some efforts have been enforced and implemented. However, they are totally not adequate, considering the advances in medical genetics and genomics in the past two decades around the world. Overall, considering the lack of medical genetics residency programs in the Iranian health education system, big demand due to high consanguinity and intraethnic marriages, there is a lag in genetic services and necessity to an immediate response to fill this big gap in Iran. As clarified in the National constitution fundamental law and re ‐emp...
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Babak Behnam, Maryam Zakeri Tags: GENETICS AND GENOMIC MEDICINE AROUND THE WORLD Source Type: research

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia
ConclusionThe result will contribute in further understanding the genotype ‐phenotype relationship of CAH patients and to guide better treatment and management of the affected. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Dung V. Chi, Thinh H. Tran, Duc H. Nguyen, Long H. Luong, Phuong T. Le, Minh H. Ta, Huong T. T. Ngo, Mai P. Nguyen, Tuan P. Le ‐Anh, Dat P. Nguyen, The‐Hung Bui, Van T. Ta, Van K. Tran Tags: ORIGINAL ARTICLE Source Type: research

Effects of MTNR1B genetic variants on the risk of type 2 diabetes mellitus: A meta ‐analysis
ConclusionsOur findings indicated thatMTNR1B rs10830963 variant might serve as a genetic biomarker of T2DM, especially in South Asians. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Ling ‐long Shen, Yin Jin Tags: ORIGINAL ARTICLE Source Type: research

The protective impact of betaine on the tissue structure and renal function in isoproterenol ‐induced myocardial infarction in rat
ConclusionAccording to our results, betaine has protective effects on isoprenaline ‐induced renal failure via a decrease in TNF‐α level and nitric oxide synthase. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Mohammad Maram Ghartavol, Shiva Gholizadeh ‐Ghaleh Aziz, Ghader Babaei, Gholam Hossein Farjah, Mohammad Hassan Khadem Ansari Tags: ORIGINAL ARTICLE Source Type: research

Exome sequencing in 51 early onset non ‐familial CRC cases
without family history of the disease has identified one pathogenic variant inPTEN in a patient with a hereditary hamartoma tumor syndrome and one pathogenic variant inPMS2. We propose three heterozygous candidate missense variants in known cancer susceptibility genes (BMPR1A, BRIP1, andSRC), three truncating variants in possibly novel cancer genes (CLSPN, SEC24B, SSH2) and four candidate missense variants inACACA, NR2C2, INPP4A, andDIDO1. We also identify five possible autosomal recessive candidate genes:ATP10B, PKHD1, UGGT2, MYH13, TFF3. AbstractBackgroundColorectal cancer (CRC) cases with an age of onset
Source: Molecular Genetics & Genomic Medicine - February 27, 2019 Category: Genetics & Stem Cells Authors: Jessada Thutkawkorapin, Annika Lindblom, Emma Tham Tags: ORIGINAL ARTICLE Source Type: research

Analysis of the Prader –Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing
ConclusionDroplet digital polymerase chain reaction is a cost ‐effective method that can be used to confirm the presence of microdeletions in PWS with impact on genetic counseling and recurrence risks for families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 21, 2019 Category: Genetics & Stem Cells Authors: Samantha N. Hartin, Waheeda A. Hossain, David Francis, David E. Godler, Sangjucta Barkataki, Merlin G. Butler Tags: ORIGINAL ARTICLE Source Type: research

The promising novel biomarkers and candidate small molecule drugs in kidney renal clear cell carcinoma: Evidence from bioinformatics analysis of high ‐throughput data
ConclusionsThis study first uncovered six key genes in KIRC which contributed to improving our understanding of the molecular mechanisms of KIRC pathogenesis.ACAA1, ACADSB, ALDH6A1, AUH, HADH,and PCCA could serve as the promising novel biomarkers for KIRC diagnosis, prognosis, and treatment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 21, 2019 Category: Genetics & Stem Cells Authors: Bo Zhang, Qiong Wu, Ziheng Wang, Ran Xu, Xinyi Hu, Yidan Sun, Qiuhong Wang, Fei Ju, Shiqi Ren, Chenlin Zhang, Lin Qin, Qianqian Ma, You Lang Zhou Tags: ORIGINAL ARTICLE Source Type: research

Targeted next generation sequencing identified novel loss ‐of‐function mutations in MERTK gene in Chinese patients with retinitis pigmentosa
ConclusionOur present study also demonstrates the significance of targeted next generation sequencing in determining the genetic basis of RP. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 20, 2019 Category: Genetics & Stem Cells Authors: Song Liu, Jian Gang Bi, Yunlong Hu, Donge Tang, Bo Li, Peng Zhu, Wujian Peng, Dong Du, Huiyan He, Jun Zeng, Yong Dai Tags: ORIGINAL ARTICLE Source Type: research

Cover
The cover image based on Original ArticleDMD Open ‐access Variant Explorer (DOVE): A scalable, open‐access, web‐based tool to aid in clinical interpretation of genetic variants in the DMD gene by Mitchell Bailey and Nicole Miller, DOI:10.1002/mgg3.510. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 20, 2019 Category: Genetics & Stem Cells Authors: Mitchell Bailey, Nicole Miller Tags: COVER Source Type: research