A 10 ‐year prevalence of congenital hypothyroidism in Khorramabad (Urban Western Iran)
ConclusionThe overall prevalence of congenital hypothyroidism in young patients up to 3  years is 0.143%, these values are at least twice those of previous estimates. This proposes an elevation in autoimmune thyroid disease, which is similitude to the rising prevalence of diabetes type 1, which possibly indicates a rising incidence of autoimmunity in youth. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Nadereh Taee, Mojgan Faraji Goodarzi, Mohammad Safdari, Amir Bajelan Tags: ORIGINAL ARTICLE Source Type: research

A novel homozygous initiation codon variant associated with infantile alpha ‐Bcrystallinopathy in a Chinese family
ConclusionsThis article reports one infant withCRYAB‐related neonatal onset MFM with a novel homozygous variant inCRYAB. To our knowledge, this is the first reported case of infantile alpha ‐Bcrystallinopathy in the Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Keze Ma, Dong Luo, Tian Tian, Ning Li, Xiaoguang He, Chunbao Rao, Baimao Zhong, Xiaomei Lu Tags: ORIGINAL ARTICLE Source Type: research

Functional independence of Taiwanese patients with mucopolysaccharidoses
ConclusionMPS patients require support and supervision in self ‐care tasks. For cognition tasks, MPS IIIB patients also require help. This questionnaire is useful to identify the strengths and limitations of MPS patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Chung ‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chi Tags: ORIGINAL ARTICLE Source Type: research

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome
ConclusionThis study demonstrated a novelMBTPS2 mutation in a patient with IFAP syndrome and thus expands the knownMBPTS2 molecular repertoire. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Yanyun Jiang, Hongzhong Jin, Yueping Zeng Tags: CLINICAL REPORT Source Type: research

Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases
This study is a review of 1625 product of abortion and fetal tissue using Array comparative genomic hybridization in combination with QF ‐PCR. This is the second largest study with the main difference 35 percent of couples are related. We found a statistically significant difference between copy number variations and aneuploidies found in related versus unrelated couples. AbstractBackgroundPregnancy loss affects 10% –15% of pregnancies and is caused by several factors, maternal and fetal. Most common cause is chromosomal aneuploidy and has traditionally been detected by karyotyping product of conception and/or feta...
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Kimia Najafi, Soheila Gholami, Azadeh Moshtagh, Masood Bazrgar, Neda Sadatian, Golemaryam Abbasi, Parvin Rostami, Soheila Khalili, Mojgan Babanejad, Bahareh Nourmohammadi, Negin Faramarzi Garous, Hossein Najmabadi, Roxana Kariminejad Tags: ORIGINAL ARTICLE Source Type: research

Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype
ConclusionCMA improved the diagnostic yield of chromosomal aberrations for fetuses with NTs of 2.5 –3.4 mm and apparently normal karyotype, regardless of whether other ultrasonic abnormalities were observed. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Linjuan Su, Hailong Huang, Gang An, Meiying Cai, Xiaoqing Wu, Ying Li, Xiaorui Xie, Yuan Lin, Meiying Wang, Liangpu Xu Tags: ORIGINAL ARTICLE Source Type: research

Expression and allele frequencies of Thymic stromal lymphopoietin are a key factor of breast cancer risk
ConclusionThe results reveal significant correlation between SNPs in TSLP and BC progression in Saudi Arabian female patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Abdelhabib Semlali, Mikhlid Almutairi, Narasimha Reddy Parine, Abdullah Al Amri, Rafa Almeer, Mohammad S. Alanazi, Mahmoud Rouabhia Tags: ORIGINAL ARTICLE Source Type: research

Incidence, demographic characteristics, and geographic distribution of sickle cell trait and sickle cell anemia births in Michigan, 1997 –2014
ConclusionCompared to SCA, sickle cell trait births occur at 50 ‐fold greater incidence and have a substantially expanded geographic distribution. Further research is necessary to understand the most appropriate and impactful use of resources to increase the proportion of families and adults that are aware of their sickle cell trait status. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Sarah L. Reeves, Hannah K. Jary, Jennifer P. Gondhi, Mary Kleyn, Kayte Spector ‐Bagdady, Kevin J. Dombkowski Tags: ORIGINAL ARTICLE Source Type: research

Association of BCR/ABL transcript variants with different blood parameters and demographic features in Iraqi chronic myeloid leukemia patients
ConclusionsThe testified Iraqi group expressed M ‐BCR ‐ABL type with preponderance of b3a2 over b2a2 subtype. There was a gender ‐skewed distribution inBCR ‐ABL transcript types with b3a2 transcript more prevalent in males. The type ofBCR ‐ABL transcript is reflected by different leukocyte and platelet counts at diagnosis, which might represent a distinct phenotype and disease biology. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Mahmood S. Khazaal, Farqad B. Hamdan, Qasim S. Al ‐Mayah Tags: ORIGINAL ARTICLE Source Type: research

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
ConclusionThese molecular data together with the clinical information enable us to propose a genotype –phenotype correlation, which is essential for providing genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Silvia Vidal, Ainhoa Pascual ‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong Tags: ORIGINAL ARTICLE Source Type: research

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
ConclusionWe report a novel homozygousCREB3L1 mutation in a large Indonesian family; the homozygous affected members have survived to adulthood and they present a more severe phenotype than previously reported, expanding the clinical spectrum of OI for this gene. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Ferdy K. Cayami, Alessandra Maugeri, Sanne Treurniet, Eva D. Setijowati, Bernd P. Teunissen, Elisabeth M.W. Eekhoff, Gerard Pals, Sultana M. Faradz, Dimitra Micha Tags: CLINICAL REPORT Source Type: research

Long non ‐coding RNA NORAD promotes the occurrence and development of non‐small cell lung cancer by adsorbing MiR‐656‐3p
ConclusionLncRNANORAD is capable of promoting the proliferation and migration of NSCLC cells, and its mechanism may be that it increases theAKT1 expression by adsorbing miR ‐656‐3p. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Tianyu Chen, Shaoyun Qin, Yinan Gu, Huaqin Pan, Dachen Bian Tags: ORIGINAL ARTICLE Source Type: research

Investigation of new candidate genes in retinoblastoma using the TruSight One “clinical exome” gene panel
This study might be an important report on emphazing the mutational status of other genes in patients withoutRB1 gene mutations and having high risk for developing retinoblastoma. The study also indicates the interaction between the retinoic acid pathway and Rb oncogenesis for the first time. AbstractBackgroundRetinoblastoma (Rb) is the most prevalent intraocular pediatric malignancy of the retina. Significant genetic factors are known to have a role in the development of Rb.MethodsHere, we report the mutation status of 4813 clinically significant genes in six patients with noncarrier ofRB1 gene mutation and having normalR...
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Demet Akdeniz, Seref Bugra Tuncer, Rejin Kebudi, Betul Celik, Gozde Kuru, Seda Kilic, Ozge Sukruoglu Erdogan, Mukaddes Avsar, Sema Buyukkapu Bay, Samuray Tuncer, Hulya Yazici Tags: ORIGINAL ARTICLE Source Type: research

A new mutL homolog 1 c.1896+5G > A germline mutation detected in a Lynch syndrome ‐associated lung and gastric double primary cancer patient
ConclusionDiagnosis of LS was mainly depended on the following: the cancer histories of his relatives, multi ‐primary cancers of lung and stomach in his own body, MLH1 and MSH2 gene mutations detected in the cancer tissues. The clinical significance of this new MLH1 c.1896+5G>A germline mutation detected in the LS ‐associated double primary cancer patient needed further study. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Xuyuan Chen, Xiang Li, Hongsen Liang, Lichun Wei, Qiang Cui, Ming Yao, Xu Wu Tags: CLINICAL REPORT Source Type: research

Significant association between RETN genetic polymorphisms and alcohol ‐induced osteonecrosis of femoral head
ConclusionThese results suggest thatRETN genetic polymorphisms are associated with the susceptibility of alcohol ‐induced ONFH in Chinese Han population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Chang Liu, Feimeng An, Yuju Cao, Jiaqi Wang, Ye Tian, Huiqiang Wu, Jianzhong Wang Tags: ORIGINAL ARTICLE Source Type: research

KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series
ConclusionKCNQ2 ‐related epilepsy led to varied outcomes (from benign to severe) in our patients.KCNQ2 mutations accounted for 13% of patients with seizure onset before 2  months old in our study.KCNQ2 mutations can cause different phenotypes in children. p.(Pro 285Thr) is a novel mutation, and the p.(Pro 285Thr), p.(Ser247Leu), and p.(Thr287Ile) variants can cause neonatal ‐onset epileptic encephalopathy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Inn ‐Chi Lee, Tung‐Ming Chang, Jao‐Shwann Liang, Shuan‐Yow Li Tags: ORIGINAL ARTICLE Source Type: research

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders
ConclusionOur study shows the pathogenicity of missense and inframeshift variants of NDD ‐related FOX genes, which is important for clinical diagnosis and genetic counseling. Functional analysis is needed to determine the pathogenicity of the variants with uncertain clinical significance. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Lin Han, Meilin Chen, Yazhe Wang, Huidan Wu, Yingting Quan, Ting Bai, Kuokuo Li, Guiqin Duan, Yan Gao, Zhengmao Hu, Kun Xia, Hui Guo Tags: ORIGINAL ARTICLE Source Type: research

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism
ConclusionIn this study, specific clinical characteristics of OCA patients were described. Three novel pathogenic mutations were identified which will enrich the mutation spectrum of OCA, and the prenatal genetic screening in fetus at risk of OCA can provide vital information for genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Ye Lin, Xihui Chen, Ying Yang, Fengyu Che, Sijia Zhang, Lijuan Yuan, Yuanming Wu Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
ConclusionOur results highlight the importance of screening for large rearrangements in CF cases with no or only oneCFTR mutation defined. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Raisa da Silva Martins, Mario Campos Junior, Aline dos Santos Moreira, Ver ônica Marques Zembrzuski, Ana Carolina Proença da Fonseca, Gabriella de Medeiros Abreu, Pedro Hernan Cabello, Giselda Maria Kalil de Cabello Tags: ORIGINAL ARTICLE Source Type: research

Is polycystic kidney disease associated with malignancy in children?
ConclusionOur report illustrates the potential that PKD may be associated with an increased risk for developing cancer, even in children. Further research is necessary to better understand this relationship. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Brian D. Friend, Kami Wolfe Schneider, Timothy Garrington, Laurel Truscott, Julian A. Martinez ‐Agosto, Robert S. Venick, Eileen Tsai Chambers, Patricia Weng, Douglas G. Farmer, Vivian Y. Chang, Noah Federman Tags: CLINICAL REPORT Source Type: research

Association of a homozygous GCK missense mutation with mild diabetes
ConclusionsWe present the third case of homozygousGCK mutations associated with mild hyperglycemia, rather than PNDM. Our in ‐silico analyses support previous evidences suggesting that protein stability plays a role in determining clinical severity ofGCK mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Antonella Marucci, Tommaso Biagini, Rosa Di Paola, Claudia Menzaghi, Grazia Fini, Stefano Castellana, Giuliana Marcella Cardinale, Tommaso Mazza, Vincenzo Trischitta Tags: CLINICAL REPORT Source Type: research

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
ConclusionsThis study shows that a gene panel that includes the majority of known disease ‐causing genes can rapidly identify a diagnosis in a large number of tested infants. Due to simpler deployment and interpretation and lower costs, this approach might represent an alternative to ES/GS in the NICU/PICU/CICU. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 13, 2019 Category: Genetics & Stem Cells Authors: Luca Brunelli, Sabrina M. Jenkins, James M. Gudgeon, Steven B. Bleyl, Christine E. Miller, Tatiana Tvrdik, Shale A. Dames, Betsy Ostrander, Josue A. F. Daboub, Brandon A. Zielinski, Erin K. Zinkhan, Hunter R. Underhill, Theodore Wilson, Joshu Tags: ORIGINAL ARTICLE Source Type: research

Cover
The cover image based on Original ArticleTooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype ‐phenotype correlation analyses of TP63‐related disorders by Jinglei Zheng et al., DOI:10.1002/mgg3.704. Illustration Credit: Jinglei Zheng. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 13, 2019 Category: Genetics & Stem Cells Authors: Jinglei Zheng, Haochen Liu, Yuan Zhan, Yang Liu, Sing ‐Wai Wong, Tao Cai, Hailan Feng, Dong Han Tags: COVER Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 6, June 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 13, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I
ConclusionThe novel heterozygous c.420 ‐424de1CGCGGinsTTAC mutation is the molecular pathological cause for WS1 in our patient. The clinical and genetic characterization of this family with WS1 elucidated the genetic heterogeneity ofPAX3 in WS1. Moreover, the mutation detected in this case has expanded the database ofPAX3 mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 12, 2019 Category: Genetics & Stem Cells Authors: Jing Ma, Ken Lin, Hong ‐chao Jiang, Yanli Yang, Yu Zhang, Guilian Yang, Hao Sun, Cheng Ming, Xianyun Bi, Tiesong Zhang, Biao Ruan Tags: ORIGINAL ARTICLE Source Type: research

Attitudes of people with inherited retinal conditions toward gene editing technology
ConclusionPeople with RP and LCA have diverse attitudes toward gene editing technology informed by their own lived experience with disability, and many have concerns about how the ways in which it is discussed and implemented might affect them. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 12, 2019 Category: Genetics & Stem Cells Authors: Lily Hoffman ‐Andrews, Ronit Mazzoni, Michelle Pacione, Rosemarie Garland‐Thomson, Kelly E. Ormond Tags: ORIGINAL ARTICLE Source Type: research

TET2 missense variants in human neoplasia. A proposal of structural and functional classification
ConclusionsThe proposed classification of missenseTET2 variants would help to assess their clinical impact on human neoplasia and may guide future structure ‐and‐function investigations of TET family members. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 11, 2019 Category: Genetics & Stem Cells Authors: Elena Bussaglia, Rosa Ant ón, Josep F. Nomdedéu, Pablo Fuentes‐Prior Tags: ORIGINAL ARTICLE Source Type: research

A comprehensive immune repertoire study for patients with pulmonary tuberculosis
ConclusionIn conclusion, we studied the patients with tuberculosis as well as healthy control individuals in order to understand the characteristics of immune repertoire. Sharing of CDR3 sequences and differential expression of genes was found among the patients with tuberculosis which could be used for the development of potential vaccine and targets treatment. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 7, 2019 Category: Genetics & Stem Cells Authors: Yingyun Fu, Bo Li, Yazhen Li, Minlian Wang, Yongjian Yue, Lan Xu, Shulin Li, Qijun Huang, Song Liu, Yong Dai Tags: ORIGINAL ARTICLE Source Type: research

A novel mutation in the GARS gene in a Malian family with Charcot ‐Marie‐Tooth disease
ConclusionThis is the first report of a genetically confirmed CMT2D case in Africa, expanding its genetic epidemiology. Increasing access to genetic testing may reveal more novel CMT variants or genes in the African population that could be relevant to other populations and further our understanding of their mechanism. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 7, 2019 Category: Genetics & Stem Cells Authors: Abdoulaye Yalcouy é, Seybou H. Diallo, Thomas Coulibaly, Lassana Cissé, Salimata Diallo, Oumar Samassékou, Salimata Diarra, Dramane Coulibaly, Mohamed Keita, Cheick O. Guinto, Kenneth Fischbeck, Guida Landouré, The H3Africa Consortium Tags: CLINICAL REPORT Source Type: research

Role of ACE I/D polymorphism in pathological assessment of preeclampsia in Pakistan
Present study reveals importance of clinical risk factors and I/D polymorphism of the Angiotensin ‐converting enzyme (ACE) gene in women with preeclampsia (PE) and healthy controls In addition, histological examination of placenta and umbilical cord (UC) in current study can provide useful information in determination of various reasons and mechanisms involved in pathogenesis of PE in Pakistan . AbstractBackgroundPreeclampsia (PE) is a pregnancy ‐related hypertensive disorder, which may stem from impair placentation. Renin‐angiotensin system is one of the mediators of decidualization and trophoblastic proliferation. ...
Source: Molecular Genetics & Genomic Medicine - June 7, 2019 Category: Genetics & Stem Cells Authors: Ghazala Shaheen, Sabahat Sajid, Suhail Razak, Saeeda Batool Mazhar, Tayyaba Afsar, Ali Almajwal, Iftikhar Alam, Sarwat Jahan Tags: ORIGINAL ARTICLE Source Type: research

Fabry pedigree analysis: A successful program for targeted genetic approach
ConclusionThe targeted family screening approach is successful to detect undiagnosed Fabry patients. By this approach, the highest ratio index to pedigree ever reported for FD pedigree analysis of 1:15 was obtained. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 6, 2019 Category: Genetics & Stem Cells Authors: Paula A. Rozenfeld, Francisca M. Masllorens, Norma Roa, Fernanda Rodriguez, Mariela Bonnano, Carolina Yvorra, Romina Ceci Tags: ORIGINAL ARTICLE Source Type: research

Reduced ribosomal RNA expression and unchanged ribosomal DNA promoter methylation in oral squamous cell carcinoma
ConclusionThe methylation in rDNA promoter could not explain for the suppressed rRNA expression in OSCC tissues. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 6, 2019 Category: Genetics & Stem Cells Authors: Shanshan Ha, Hong Zhou, Mayank Gautam, Yaling Song, Changning Wang Tags: ORIGINAL ARTICLE Source Type: research

Prednisone may rebuild the immunologic homeostasis: Alteration of Th17 and Treg cells in the lymphocytes from rats' spleens after treated with prednisone ‐containing serum
This study aimed to investigate alterations of T helper 17 (Th17), regulatory T (Treg) cells and relative cytokines after treated with prednisone ‐contained serum. Lymphocytes were isolated from female rats’ spleens. AbstractBackgroundThis study aimed to investigate alterations of T helper 17 (Th17), regulatory T (Treg) cells and relative cytokines after treating with prednisone ‐contained serum. Lymphocytes were isolated from female rats' spleens.MethodsThe splenic lymphocytes were divided into four groups: which were treated with normal rats' serum (control); prednisone ‐containing rats' serum (PDN); normal r...
Source: Molecular Genetics & Genomic Medicine - June 6, 2019 Category: Genetics & Stem Cells Authors: Xiao ‐Qian Fu, Jun‐Ying Cai, Mu‐Jun Li Tags: ORIGINAL ARTICLE Source Type: research

A comprehensive assessment of Next ‐Generation Sequencing variants validation using a secondary technology
ConclusionConsidering of the above comprehensive assessment, a new variant with high quality from a well ‐validated capture‐based NGS workflow can be reported directly without validation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 4, 2019 Category: Genetics & Stem Cells Authors: Jianchao Zheng, Hongyun Zhang, Santasree Banerjee, Yun Li, Junyu Zhou, Qian Yang, Xuemei Tan, Peng Han, Qinmei Fu, Xiaoli Cui, Yuying Yuan, Meiyan Zhang, Ruiqin Shen, Haifeng Song, Xiuqing Zhang, Lijian Zhao, Zhiyu Peng, Wei Wang, Ye Yin Tags: ORIGINAL ARTICLE Source Type: research

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome
ConclusionTumor mutational signatures 6 and 15 and somatic mutation burden were effective in differentiating Lynch ‐related from non‐Lynch sebaceous lesions. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 4, 2019 Category: Genetics & Stem Cells Authors: Peter Georgeson, Michael D. Walsh, Mark Clendenning, Simin Daneshvar, Bernard J. Pope, Khalid Mahmood, Jihoon E. Joo, Harindra Jayasekara, Mark A. Jenkins, Ingrid M. Winship, Daniel D. Buchanan Tags: ORIGINAL ARTICLE Source Type: research

Frequency of GJB2 mutations, GJB6 ‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran
ConclusionIn comparison with reports from other areas of Iran, c.35delG demonstrates the highest frequency within the central region (accounting for 57.14% of cases), probably resulting from the founder effect and consanguineous marriage. The pathology of ARNSHL in such patients could be attributed to defects in Connexin 26 encoded byGJB2. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 4, 2019 Category: Genetics & Stem Cells Authors: Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorifar Tags: ORIGINAL ARTICLE Source Type: research

Association between K469E polymorphism of ICAM ‐1 gene and susceptibility of ischemic stroke: An updated meta‐analysis
ConclusionK469E polymorphism of ICAM ‐1 gene might be a risk factor for ischemic stroke in Caucasians, which suggested that K469E polymorphism might help in early identification of those at risk and help in primary prevention of ischemic stroke. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 3, 2019 Category: Genetics & Stem Cells Authors: Gaurav Nepal, Jayant Kumar Yadav, YuHui Kong Tags: ORIGINAL ARTICLE Source Type: research

Circular RNA expression profiles and bioinformatics analysis in ovarian endometriosis
ConclusionOur data suggested that circRNAs are differentially expressed in endometriosis, which might be candidate factors for pathogenesis of this disease and be considered as promising therapeutic targets in the future. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 29, 2019 Category: Genetics & Stem Cells Authors: Dandan Wang, Yajuan Luo, Guangwei Wang, Qing Yang Tags: ORIGINAL ARTICLE Source Type: research

Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine ‐responsive megaloblastic anemia in an Egyptian family
ConclusionOur analysis extend the number of inactivating mutations inSLC19A2 leading to TRMA that could guide future prenatal diagnosis for the family and follow ‐up for patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 29, 2019 Category: Genetics & Stem Cells Authors: Khalda Amr, Patrycja Pawlikowska, Said Aoufouchi, Filippo Rosselli, Ghada El ‐Kamah Tags: ORIGINAL ARTICLE Source Type: research

Influence of common SCN1A promoter variants on the severity of SCN1A ‐related phenotypes
ConclusionThe nonsignificant observed trends in our study warrant replication studies in larger cohorts to explore the potential modifying role of these commonSCN1A promoter ‐haplotypes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 29, 2019 Category: Genetics & Stem Cells Authors: Iris M. Lange, Wout Weuring, Ruben ‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Mark McCormack, Carolien Kovel, Lisette J. J. M. Gemert, Flip Mulder, Marjan J. A. Kempen, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman Tags: ORIGINAL ARTICLE Source Type: research

Genotype ‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome
ConclusionOur results revealed the spectrum of type IV collagen genes, which contribute to the enrichment of database resources and has important implications in the diagnosis, prognosis, and guiding treatment of AS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 29, 2019 Category: Genetics & Stem Cells Authors: Shunlai Shang, Fei Peng, Tao Wang, Xiaoyuan Wu, Ping Li, Qinggang Li, Xiang M. Chen Tags: ORIGINAL ARTICLE Source Type: research

Assessment of the association between ACYP2 and laryngeal squamous cell carcinoma risk in Chinese males
In this study, we aimed to investigate the association betweenACYP2 polymorphisms and laryngeal cancer risk in Chinese Han males. The results showed that rs1682111 was associated with a decreased risk of laryngeal squamous cell carcinoma (LSCC), while rs10439478, rs11125529, rs12615793, rs843711, rs11896604, and rs17045754 play a harmful role in the development of LSCC. Furthermore, the results of Genotype ‐Tissue Expression analysis indicate that these significant single‐nucleotide polymorphisms were known to be associated withACYP2 expression. Our findings indicate thatACYP2 may play a crucial role in the process of ...
Source: Molecular Genetics & Genomic Medicine - May 29, 2019 Category: Genetics & Stem Cells Authors: Wenhui Zhao, Fanglin Niu, Zhilan Xie, Mengdan Yan, Jingjie Li, Yuan Zhang, Jun Chen, Qiufang Liu, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research

Gene expression in blood from an individual with β‐thalassemia: An RNA sequence analysis
ConclusionWe compare our findings with published results of RNA ‐sequencing analysis of sickle cell disease and erythroblasts from a KLF1‐null neonate with hydrops fetalis, and recognize similarities and differences in their transcriptional expression patterns. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 27, 2019 Category: Genetics & Stem Cells Authors: Forough Taghavifar, Mohammad Hamid, Gholamreza Shariati Tags: ORIGINAL ARTICLE Source Type: research

Genetic analysis of the relation between IL2RA/IL2RB and rheumatoid arthritis risk
We aimed to determine genetic risk factors for rheumatoid arthritis, and Chi ‐squared tests and genetic model were used to evaluate the association. Our study indicates the inherited altered genetic constitution at the IL2RA may predispose to a less destructive course of rheumatoid arthritis. AbstractBackgroundThe biological mechanisms driving disease chronicity in rheumatoid arthritis (RA) are largely unidentified. Therefore, we aimed to determine genetic risk factors for RA.MethodsIn this case –control study, which includes samples from 499 patients and 507 healthy controls, six single‐nucleotide polymorphisms ...
Source: Molecular Genetics & Genomic Medicine - May 27, 2019 Category: Genetics & Stem Cells Authors: Yonghui Yang, Shan Yuan, Meihua Che, Haiyin Jing, Limin Yuan, Kuaini Dong, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research

Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next ‐generation sequencing
ConclusionOur data suggest thatBRCA1/2 variants may contribute to the pathogenesis of familial breast cancer in Bahrain. It also shows that NGS is useful tool for screeningBRCA1/2 genetic variants of probands and unaffected relatives. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 26, 2019 Category: Genetics & Stem Cells Authors: Fatima Al Hannan, Michael B. Keogh, Safa Taha, Latifa Al Buainain Tags: ORIGINAL ARTICLE Source Type: research

Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects
ConclusionOur study first presents a comprehensive mutation spectrum of hypouricemia in a large Chinese cohort. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 26, 2019 Category: Genetics & Stem Cells Authors: Zhaowei Zhou, Ke Wang, Juan Zhou, Can Wang, Xinde Li, Lingling Cui, Lin Han, Zhen Liu, Wei Ren, Xuefeng Wang, Keke Zhang, Zhiqiang Li, Dun Pan, Changgui Li, Yongyong Shi Tags: ORIGINAL ARTICLE Source Type: research

IL ‐7R gene polymorphisms among patients with rheumatoid arthritis: A case–control study
We explored the associations between interleukin ‐7 receptor (IL ‐7R) gene polymorphisms and Rheumatoid arthritis (RA) susceptibility. Our results suggested rs969129 and rs6451231 (IL ‐7R) were associated with increased risk of RA in the Chinese Han population. AbstractBackgroundRheumatoid arthritis (RA) is the most common inflammatory disease which refers to bony erosions and joint destruction largely caused by genetic factors. Our study aimed to explore whether interleukin ‐7 receptor (IL ‐7R) gene polymorphisms influenced RA risk in the Han Chinese population.MethodsFive single nucleotide polymorphisms (SNPs) ...
Source: Molecular Genetics & Genomic Medicine - May 26, 2019 Category: Genetics & Stem Cells Authors: Mei Bai, Xue He, Yongjun He, Dongya Yuan, Tianbo Jin, Li Wang Tags: ORIGINAL ARTICLE Source Type: research

Role of genomics literacy in reducing the burden of common genetic diseases in Africa
ConclusionWe propose a number of approaches that if adopted will significantly increase the genomic literacy and reduce the burden of genetic diseases in Africa. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 26, 2019 Category: Genetics & Stem Cells Authors: Gerald Mboowa, Ivan Sserwadda Tags: REVIEW ARTICLE Source Type: research

VCF ‐Server: A web‐based visualization tool for high‐throughput variant data mining and management
ConclusionsWith an easy ‐to‐use graphical interface, VCF‐Server allows researchers with little bioinformatics background to explore and mine mutation data, which may broaden the application of NGS technology in clinics and research. The tool is freely available for use athttps://www.diseasegps.org/VCF-Server?lan = eng. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 24, 2019 Category: Genetics & Stem Cells Authors: Jianping Jiang, Jianlei Gu, Tingting Zhao, Hui Lu Tags: ORIGINAL ARTICLE Source Type: research

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants
ConclusionWe thus present the GPI biosynthesis database and review the molecular genetics of published variants in GPI ‐anchor biosynthesis genes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 24, 2019 Category: Genetics & Stem Cells Authors: Nissan Vida Baratang, Daniel Alexander Jimenez Cruz, Norbert Fonya Ajeawung, Thi Tuyet Mai Nguyen, Guillermo Pacheco ‐Cuéllar, Philippe M. Campeau Tags: ORIGINAL ARTICLE Source Type: research