Two novel mutations in TTN of a patient with congenital myopathy: A case report
ConclusionWe propose that unbiased genomic sequencing can be helpful in screening patients with early ‐onset myopathy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 22, 2019 Category: Genetics & Stem Cells Authors: Joon Young Jang, Yulhyun Park, Dae ‐Hyun Jang, Ja‐Hyun Jang, Ju Seok Ryu Tags: CLINICAL REPORT Source Type: research

Toll ‐like receptor 4 polymorphisms in Saudi population with cardiovascular diseases
ConclusionA deeper understanding of the genetic variability of TLR4 will enable us to better identification of biomarkers for early detection and prognosis, and also enhance the decision ‐making process of treatments for cardiovascular diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 21, 2019 Category: Genetics & Stem Cells Authors: Abdelhabib Semlali, Mikhlid Al Mutairi, Ibrahim Oqla Alanazi, Hasan Awad Aljohi, Narasimha Reddy Parine, Abdullah Alhadheq, Abdulaziz A. Al ‐Jafari, Abdulelah F. Mobeirek, Abdullah Al Amri, Jilani P. Shaik, Fatima‐zohra Filali, Mohammad Ala Tags: ORIGINAL ARTICLE Source Type: research

Long noncoding RNA HOTTIP is associated with male infertility and promotes testicular embryonal carcinoma cell proliferation
ConclusionTherefore,HOTTIP acting as ceRNAs to promote testicular embryonal carcinoma cell proliferation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 21, 2019 Category: Genetics & Stem Cells Authors: Yang Su, Ling ‐Ling Zhou, Yu‐Qing Zhang, Liang‐Yu Ni Tags: ORIGINAL ARTICLE Source Type: research

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family
ConclusionDespite the evidence provided, pathogenic variants in theGLI3 do not always definitely correlate with syndromic or nonsyndromic clinical phenotypes associated with this gene. For this reason, further transcriptomic and proteomic evaluation could be suggested. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 20, 2019 Category: Genetics & Stem Cells Authors: Evelina Siavrien ė, Violeta Mikštienė, Darius Radzevičius, Živilė Maldžienė, Tautvydas Rančelis, Gunda Petraitytė, Giedrė Tamulytė, Ingrida Kavaliauskienė, Laurynas Šarkinas, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitie Tags: CLINICAL REPORT Source Type: research

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three ‐generation family with Crouzon syndrome carrying a mutant c.799T > C FGFR2
ConclusionCrouzon syndrome in this three ‐generation family was caused by c.799T>CFGFR2, and the patient showed a different phenotypic appearance from other Crouzon patients with c.799T>CFGFR2. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 18, 2019 Category: Genetics & Stem Cells Authors: Meina Lin, Yongping Lu, Yu Sui, Ning Zhao, Ying Jin, Dongxu Yi, Miao Jiang Tags: CLINICAL REPORT Source Type: research

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
ConclusionTogether with the CNVs we previously identified, a total of four pathogenicIDUA CNVs have now been reported. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 18, 2019 Category: Genetics & Stem Cells Authors: Amir Jahic, Sven G ünther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz Tags: ORIGINAL ARTICLE Source Type: research

Oncometabolites: A new insight for oncology
Molecular Genetics&Genomic Medicine, EarlyView. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 18, 2019 Category: Genetics & Stem Cells Authors: Fatemeh Khatami, Seyed Mohammad Kazem Aghamir, Seyed Mohammad Tavangar Tags: EDITORIAL Source Type: research

Functional evaluation of a novel GLA causative mutation in Fabry disease
ConclusionA novel GLA missense mutation, c.280T>C (Cys94Arg), was found in a Chinese family with predominant renal manifestations of FD. Our study reveals the pathogenesis of c.280T>C mutation to FD and provides scientific foundation for accurate diagnosis and precise medical intervention for FD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 18, 2019 Category: Genetics & Stem Cells Authors: Ping Li, Lijuan Zhang, Qiuhong Xiong, Zhe Wang, Xiaodong Cui, Yong ‐An Zhou, Yuxian Wang, Han Xiao, Changxin Wu Tags: ORIGINAL ARTICLE Source Type: research

Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman
ConclusionThis report added a new type of variation to the spectrum of 18p terminal deletion with inverted duplication, and demonstrated that the maternal chromosome rearrangement discovered in NIPT should not just be consider as an interference factor but also a potential indicator of previously undiscovered pathogenic chromosome structure variations in pregnant women. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Jianjiang Zhu, Hong Qi, Sha Cao, Lirong Cai, Xiaohui Wen, Guodong Tang, Qian Wan, Chen Chen, Juan Wang, Wen Zeng, Yao Luo Tags: ORIGINAL ARTICLE Source Type: research

The role of BRCA1/2 in hereditary and familial breast and ovarian cancers
ConclusionThis review emphasizes the importance of screeningBRCA genetics, in addition to their clinical utility. Furthermore, founder variants are anticipated in the Saudi population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Yousef M. Hawsawi, Nouf S. Al ‐Numair, Turki M. Sobahy, Areej M. Al‐Ajmi, Raneem M. Al‐Harbi, Mohammed A. Baghdadi, Atif A. Oyouni, Osama M. Alamer Tags: REVIEW ARTICLE Source Type: research

Whole ‐exome sequencing and immunohistochemistry findings in von Hippel–Lindau disease
ConclusionExcept for a SNV in theVHL gene, no other somatic SNVs were detected using WES. The phospho ‐S6 ribosomal protein in the mTOR pathway is a potential target in VHL‐related cerebellum hemangioblastomas. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Xiaopeng Guo, Lu Gao, Xiafei Hong, Dan Guo, Wenyu Di, Xiaoman Wang, Zhiqin Xu, Bing Xing Tags: ORIGINAL ARTICLE Source Type: research

Relationships between SNPs and prognosis of breast cancer and pathogenic mechanism
ConclusionsSNP rs3803662 (TOX3/TNRC9) is an independent prognostic factor for breast cancer in Henan Han Population. ER ‐TOX3/TNRC9 is the best possible pathway involved in the pathogenesis of breast cancer. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 17, 2019 Category: Genetics & Stem Cells Authors: Yaning He, Hui Liu, Qi Chen, Yingbo Shao, Suxia Luo Tags: ORIGINAL ARTICLE Source Type: research

The roles of transmembrane 6 superfamily member 2 rs58542926 polymorphism in chronic liver disease: A meta ‐analysis of 24,147 subjects
This is so far the first meta ‐analysis about TM6SF2 polymorphisms and chronic liver disease. Our pooled analyses suggested that rs58542926 polymorphism was significantly associated with chronic liver disease in both Asians and Caucasians. Future investigations are warranted to explore potential roles of other TM6SF2 polymorph isms in the development of chronic liver disease. AbstractBackgroundSome genetic association studies tried to investigate potential associations of transmembrane 6 superfamily member 2 (TM6SF2) polymorphisms with chronic liver disease. However, the results of these studies were not consistent. Thus...
Source: Molecular Genetics & Genomic Medicine - July 15, 2019 Category: Genetics & Stem Cells Authors: Xinpei Chen, Pengcheng Zhou, Luo De, Bo Li, Song Su Tags: ORIGINAL ARTICLE Source Type: research

Identification and analysis of genes associated with head and neck squamous cell carcinoma by integrated bioinformatics methods
ConclusionThis study identified effective and reliable molecular biomarkers for diagnosis and prognosis by integrated bioinformatics analysis, suggesting novel and essential therapeutic targets for HNSCC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 15, 2019 Category: Genetics & Stem Cells Authors: Yu Jin, Ya Yang Tags: ORIGINAL ARTICLE Source Type: research

Cover
The cover image based on Original ArticleA novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I by Jing Ma et al., DOI:10.1002/mgg3.798. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 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: COVER Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 7, July 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 12, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research

Comprehensive mismatch repair gene panel identifies variants in patients with Lynch ‐like syndrome
ConclusionWe have shown that other genes associated with the process of DNA MMR have a high probability of being associated with LLS families. These findings indicate that the spectrum of genes that should be tested when considering an entity like Lynch ‐like syndrome should be expanded so that a more inclusive definition of this entity can be developed. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 12, 2019 Category: Genetics & Stem Cells Authors: Alexandre Xavier, Maren Fridtjofsen Olsen, Liss A. Lavik, Jostein Johansen, Ashish Kumar Singh, Wenche Sjursen, Rodney J. Scott, Bente A. Talseth ‐Palmer Tags: ORIGINAL ARTICLE Source Type: research

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet ‐Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene
ConclusionWe speculate the evolutionary significance of this mutation and assume its strong founder effect in the Khaisoori tribe of D.I.Khan. Based on these findings, we suggest developing a molecular diagnostic test that may be used for premarital and prenatal screening of families at risk of BBS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 11, 2019 Category: Genetics & Stem Cells Authors: Muhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, Jasmin Blatterer, Ricarda Graf, Aisha Gul, Safdar Abbas, Muhammad Badar, Ansar Ahmad Abbasi, Muzammil Ahmad Khan, Christian Windpassinger Tags: ORIGINAL ARTICLE Source Type: research

Integrative genomic analysis identifies associations of molecular alterations to APOBEC and BRCA1/2 mutational signatures in breast cancer
ConclusionSpecific genetic alterations can be associated with particular MS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 11, 2019 Category: Genetics & Stem Cells Authors: Victor Trevino Tags: ORIGINAL ARTICLE Source Type: research

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects
ConclusionOur report was the first case in a Chinese family to present that a somatic and suspected gonadal mosaicism of the 22q11.2 microdeletion in female causes recurrent fetal conotruncal defects. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 11, 2019 Category: Genetics & Stem Cells Authors: Weicheng Chen, Xiaodi Li, Liqun Sun, Wei Sheng, Guoying Huang Tags: ORIGINAL ARTICLE Source Type: research

The association between interleukin ‐1 polymorphisms and their protein expression in Chinese Han patients with breast cancer
The association between genetic polymorphisms of IL ‐1 and breast cancer (BC) susceptibility in the Chinese Han population and indicates that IL‐1 polymorphisms are closely associated with tumor markers and IL‐1 βprotein expression in BC patients. AbstractBackgroundBreast cancer (BC) is the most common cancer in women and the second leading cause of cancer ‐related deaths among women worldwide. Single nucleotide polymorphisms (SNPs) in cytokine genes have been shown to alter their expressions or functions in patients with BC. In recent years, the molecular structure and function of IL‐1 have been studied. It...
Source: Molecular Genetics & Genomic Medicine - July 11, 2019 Category: Genetics & Stem Cells Authors: Juan Wang, Yonggang Shi, Gaochao Wang, Shiliang Dong, Daoke Yang, Xiaoxiao Zuo Tags: ORIGINAL ARTICLE Source Type: research

Somatic mosaicism in adult ‐onset TNF receptor‐associated periodic syndrome (TRAPS)
ConclusionThese data provide additional information about somatic mosaicism in autoinflammatory conditions and provide new insights regarding cellular players that are indispensable for the phenotypic expression of TRAPS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 10, 2019 Category: Genetics & Stem Cells Authors: Apostolos Kontzias, Samaneh K. Zarabi, Cassandra Calabrese, Yan Wang, LuAnn Judis, QingPing Yao, Yu ‐Wei Cheng Tags: CLINICAL REPORT Source Type: research

Effect of gene –gene and gene–environment interaction on the risk of first‐ever stroke and poststroke death
ConclusionsOur findings identified two novel genetic interactions ofVKORC1 andChr.9p21.3 and ofVEGFA andKDR for risk of stroke and subtypes as well as future stroke prognosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 10, 2019 Category: Genetics & Stem Cells Authors: Congrui Feng, Yunyun Yang, Shujun Yang, Xin Tu, Yibo Wang, Yiqing Song, Rutai Hui, Weili Zhang Tags: ORIGINAL ARTICLE Source Type: research

Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy
ConclusionThe identification of the genetic cause of the SCD contributed to the rational counseling of the relatives and risk assessment within the family. Furthermore our study revealed evidences for the pathomechanism ofFHL1 mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 10, 2019 Category: Genetics & Stem Cells Authors: Anna Gaertner ‐Rommel, Jens Tiesmeier, Thomas Jakob, Bernd Strickmann, Gunter Veit, Bernd Bachmann‐Mennenga, Lech Paluszkiewicz, Karin Klingel, Uwe Schulz, Kai T. Laser, Bernd Karger, Heidi Pfeiffer, Hendrik Milting Tags: ORIGINAL ARTICLE Source Type: research

Screening for Tay ‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort
ConclusionsOur results suggest that performance of an NGS ‐based TSD carrier screen that interrogates the entire coding region and employs novel variant interpretation exceeds that of Hex A enzyme testing, warranting a reconsideration of existing guidelines. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 10, 2019 Category: Genetics & Stem Cells Authors: Alana C. Cecchi, Elizabeth S. Vengoechea, Kristjan E. Kaseniit, Melanie W. Hardy, Laura A. Kiger, Nikita Mehta, Imran S. Haque, Krista Moyer, Patricia Z. Page, Dale Muzzey, Karen A. Grinzaid Tags: ORIGINAL ARTICLE Source Type: research

TSLP and TSLP receptors variants are associated with smoking
ConclusionsInvestigating TSLP and TSLPR polymorphisms is crucial for elucidating the mechanisms underlying tobacco ‐induced diseases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 9, 2019 Category: Genetics & Stem Cells Authors: Abdelhabib Semlali, Mikhlid Almutairi, Arezki Azzi, Narasimha Reddy Parine, Abdullah AlAmri, Saleh Alsulami, Talal Meshal Alumri, Mohammad Saud Alanazi, Mahmoud Rouabhia Tags: ORIGINAL ARTICLE Source Type: research

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
ConclusionThe presented patient is the second with a pathogenicMBD5 mutation in whom the course of disease is suggestive of early onset dementia starting in her fifth decade. These findings stress the importance of exome sequencing, also in elderly intellectually disabled patients, particularly in those with autism. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 9, 2019 Category: Genetics & Stem Cells Authors: Willem Verhoeven, Jos Egger, Janneke Kipp, Jiska Verheul ‐ aan de Wiel, Charlotte Ockeloen, Tjitske Kleefstra, Rolph Pfundt Tags: ORIGINAL ARTICLE Source Type: research

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay
ConclusionGermline variants inPIK3CA are associated to a mild phenotype characterized by overgrowth, severe macrocephaly, mild intellectual disability, and few dysmorphic features. Investigations of PI3K/AKT/mTOR pathway should be performed in patients with severe macrocephaly and unspecific physical overgrowth. Longitudinal studies to assess prognosis and cancer predisposition are recommended. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 9, 2019 Category: Genetics & Stem Cells Authors: Marcella Zollino, Carlotta Ranieri, Valentina Grossi, Chiara Leoni, Serena Lattante, Daniela Mazz à, Cristiano Simone, Nicoletta Resta Tags: CLINICAL REPORT Source Type: research

Evaluation of GALNT16 polymorphisms to breast cancer risk in Chinese population
ConclusionOur study suggests thatGALNT16 polymorphisms are associated with BC susceptibility in Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 8, 2019 Category: Genetics & Stem Cells Authors: Huangfu Wu, Guisheng He, Tao Song, Yazhen Zhang, Xiuxiu Chen, Huamin Chen, Wei Xiong, Chuanwei Sun, Chaoyang Zhao, Yunjing Chen Tags: ORIGINAL ARTICLE Source Type: research

rs12416605:C > T in MIR938 associates with gastric cancer through affecting the regulation of the CXCL12 chemokine gene
Conclusionrs12416605 appears to be involved in gastric cancer by affecting the regulatory function ofMIR938 on genes related to this cancer type, particularly onCXCL12 posttranscriptional regulation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 4, 2019 Category: Genetics & Stem Cells Authors: Ignasi Torruella ‐Loran, María Karla Ramirez Viña, Daniela Zapata‐Contreras, Xavier Muñoz, Eva Garcia‐Ramallo, Catalina Bonet, Carlos A. Gonzalez, Núria Sala, Yolanda Espinosa‐Parrilla, on behalf of the EPIC gastric cancer working gro Tags: ORIGINAL ARTICLE Source Type: research

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients
ConclusionWe speculate that theDRC1 deletion is a recurrent or perhaps founder mutation in Asians. The simple PCR method could be a useful screening tool. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 4, 2019 Category: Genetics & Stem Cells Authors: Kozo Morimoto, Minako Hijikata, Maimoona A. Zariwala, Keith Nykamp, Atsushi Inaba, Tz ‐Chun Guo, Hiroyuki Yamada, Rebecca Truty, Yuka Sasaki, Ken Ohta, Shoji Kudoh, Margaret W. Leigh, Michael R. Knowles, Naoto Keicho Tags: ORIGINAL ARTICLE Source Type: research

The research of ion channel ‐related gene polymorphisms with atrial fibrillation in the Chinese Han population
ConclusionsOur results suggest thatKCNE2,KCNJ2, andGJA5 influence the development of AF. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 4, 2019 Category: Genetics & Stem Cells Authors: Xiumin Liu, Yujie Li, Huan Zhang, Yuqiang Ji, Zhao Zhao, Changyu Wang Tags: ORIGINAL ARTICLE Source Type: research

A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy
ConclusionsBoth the age at the onset and the phenotypic severity of the syndrome in these two brothers were different despite identical genotypes. The younger patients had corneal opacities leading to deteriorating visual acuity. For the first time in this disease, opacities were successfully treated with corneal transplantations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Liisa Kr öger, Tuija Löppönen, Leena Ala‐Kokko, Heikki Kröger, Hanna‐Mari Jauhonen, Kaisa Lehti, Jarmo Jääskeläinen Tags: CLINICAL REPORT Source Type: research

EIF4G1 is a novel candidate gene associated with severe asthenozoospermia
ConclusionOur experimental findings indicate that the EIF4G1 gene is a novel candidate gene that may be relevant to severe AZS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Yanwei Sha, Wensheng Liu, Xianjing Huang, Yang Li, Zhiyong Ji, Libin Mei, Shaobin Lin, Shuangbo Kong, Jinhua Lu, Lingyuan Kong, Xingshen Zhu, Zhongxian Lu, Lu Ding Tags: ORIGINAL ARTICLE Source Type: research

Haplotype analysis of SERPINE1 gene: Risk for aneurysmal subarachnoid hemorrhage and clinical outcomes
The SERPINE1 gene that encoded PAI ‐1 to regulate circulating tPA level influenced the outcome of Aneurysmal Subarachnoid Hemorrhage. The haplotypes of SERPINE1 gene polymorphism are associated with delayed cerebral ischemia and clinical vasospasm. AbstractBackgroundAneurysmal subarachnoid hemorrhage (aSAH) has high fatality and permanent disability rates due to the severe damage to brain cells and inflammation. TheSERPINE1 gene that encodes PAI ‐1 for the regulation of tissue plasminogen activator is considered an important therapeutic target for aSAH.MethodsSix SNPs in theSERPINE1 gene (in order of rs2227631, rs17998...
Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Mingkuan Lin, Christoph J. Griessenauer, Robert M. Starke, R. Shane Tubbs, Mohammadali M. Shoja, Paul M. Foreman, Nilesh A. Vyas, Beverly C. Walters, Mark R. Harrigan, Philipp Hendrix, Winfield S. Fisher, Jean ‐Francois Pittet, Mali Mathru, Tags: ORIGINAL ARTICLE Source Type: research

TERT gene polymorphisms are associated with chronic obstructive pulmonary disease risk in the Chinese Li population
ConclusionOur data shed new light on the association betweenTERT SNPs and COPD susceptibility in the Chinese Li population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Yipeng Ding, Quanni Li, Cibing Wu, Wei Wang, Jie Zhao, Qiong Feng, Xiaoman Zhou, Yufei Xie, Mei Lin, Ping He, Pingdong Xie Tags: ORIGINAL ARTICLE Source Type: research

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
ConclusionWe have identified a novelCASZ1 variant in a patient with combined DCM and LVNC for the first time, thus broadening the phenotypic spectrum ofCASZ1 variants. Furthermore, this study emphasized the usefulness of whole ‐exome sequencing for genetic diagnosis of cardiomyopathy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Jun Guo, Zheng Li, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Suyun Qian, Jiansheng Zeng, Hengmiao Gao, Wei Li Tags: CLINICAL REPORT Source Type: research

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
ConclusionSynonymous variants primarily cause disease phenotype via splicing dysregulation while additional mechanisms such as translation rate also play an important role. Splicing dysregulation is likely to contribute to the disease phenotype of several non ‐synonymous variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 30, 2019 Category: Genetics & Stem Cells Authors: Upendra K. Katneni, Aaron Liss, David Holcomb, Nobuko H. Katagiri, Ryan Hunt, Haim Bar, Amra Ismail, Anton A. Komar, Chava Kimchi ‐Sarfaty Tags: ORIGINAL ARTICLE Source Type: research

Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders
ConclusionOur study broadens the population spectrum of studied ASD patients and adds new candidates at the list of genes contributing to these disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 29, 2019 Category: Genetics & Stem Cells Authors: Tania Bitar, Walid Hleihel, Sylviane Marouillat, Sandrine Vonwill, Marie ‐Laure Vuillaume, Michel Soufia, Patrick Vourc'h, Frederic Laumonnier, Christian R. Andres Tags: ORIGINAL ARTICLE Source Type: research

Genetics and genetic counseling in psychiatry: Results from an opinion survey of professionals and users
ConclusionsThe present study showed that mental health professionals were more aware of the genetic basis of psychiatric disorders than users, and both considered the implementation of a genetic counseling service very useful. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 29, 2019 Category: Genetics & Stem Cells Authors: Lourdes Martorell, Annabel Sanfeliu, Ana Bl ázquez, Elia Lojo, Maria José Cortés, Joan de Pablo, Elisabet Vilella Tags: ORIGINAL ARTICLE Source Type: research

Menkes disease complicated by concurrent Koolen ‐de Vries syndrome (17q21.31 deletion)
ConclusionMenkes disease and KdV syndrome may both present with hypotonia and abnormal hair, in addition to seizures and failure to thrive. While these genetic conditions have overlapping clinical features, they have different natural histories and different therapeutic options. Here, we report on a patient affected with both disorders and review the diagnostic and therapeutic difficulties this presented. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Taylor Woodfin, Christine Stoops, Joseph B. Philips, Edward Lose, Fady M. Mikhail, Anna Hurst Tags: CLINICAL REPORT Source Type: research

Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next ‐generation sequencing
ConclusionFive novel variants were found in three families with NSHL. Our findings extend the mutational spectrum in deafness ‐related genes and will help physicians in better understanding the etiology of hearing loss. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Xuejing Bai, Shiyan Nian, Lei Feng, Qingrong Ruan, Xuan Luo, Mengna Wu, Zefeng Yan Tags: ORIGINAL ARTICLE Source Type: research

Association of genetic polymorphism of PC ‐1 gene (rs1044498 Lys121Gln) with insulin‐resistant type 2 diabetes mellitus in Punjabi Population of Pakistan
The objective of the present study was to investigate the genetic association ofPC ‐1 rs1044498 polymorphism with insulin resistance in type 2 diabetes in the Punjabi population of Pakistan.MethodsThisstudy was carried out on 161 healthy controls and 161 patients of T2DM with insulin resistance. Whole blood was collected for DNA extraction and molecular studies. PCR ‐RFLP withAvaII was performed to determine the genotype in cases and controls. Chi ‐square and Hardy Weinberg analyses were carried out. Statistical analysis was performed by SPSS software.ResultsThe demographic data of cases and controls showed significa...
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Abdullah Abdo Albegali, Muhammad Shahzad, Muhammad Ikram Ullah, Saqib Mahmood, Maryam Rashid Tags: ORIGINAL ARTICLE Source Type: research

Functional characterization of a SNP (F51S) found in human alpha 1 ‐antitrypsin
ConclusionThe results of this study indicate that Phe51 and the surrounding hydrophobic residue cluster plays an important role in the conformation and secretion of A1AT and suggest the harmful effects of a rare F51S SNP in human health. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Hong ‐Nhung Trinh, Sei‐Heon Jang, ChangWoo Lee Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
ConclusionWe showed that the loss of the putative transmembrane domain of SERAC1, due to a novel splice site variant, impairs the protein expression and is responsible for the MEGDHEL syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Sarah Snanoudj, Patrick Mordel, Quentin Dupas, C écile Schanen, Alina Arion, Marion Gérard, Marie‐Hélène Read, Djamel Nait Rabah, Didier Goux, Françoise Chapon, Mickael Jokic, Stéphane Allouche Tags: CLINICAL REPORT Source Type: research

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
ConclusionsThis study is the first report of a homozygousCYP1B1 whole gene deletion due to paternal uniparental isodisomy of chromosome 2 as a cause of PCG. These results illustrate the importance of genetic testing in providing appropriate genetic counseling regarding the risks of recurrence. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Emmanuelle Souzeau, Andrew Dubowsky, Jonathan B. Ruddle, Jamie E. Craig Tags: CLINICAL REPORT Source Type: research

miR ‐33a inhibits cell growth in renal cancer by downregulation of MDM4 expression
ConclusionTaken together, our study indicates thatmiR ‐33a inhibits RCC cell growth by targetingMDM4. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Kehua Jiang, Fa Sun, Jianguo Zhu, Guangheng Luo, Yong Ban, Peng Zhang Tags: ORIGINAL ARTICLE Source Type: research

Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome
ConclusionsOur study shows a high prevalence of OSA and a high prevalence of overweight in MFS patients. We found some trends between OSA and cardiovascular features but we could not establish a solid association. Our study, however might be underpowered, and a multicenter collaborative study could be very useful to answer some important open questions. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 27, 2019 Category: Genetics & Stem Cells Authors: Laura Mui ño‐Mosquera, Fré Bauters, Karlien Dhondt, Hans De Wilde, Luc Jordaens, Katya De Groote, Daniel De Wolf, Katrien Hertegonne, Julie De Backer Tags: ORIGINAL ARTICLE Source Type: research

Identification of 99% of CFTR gene mutations in Bulgarian ‐, Bulgarian Turk‐, and Roma cystic fibrosis patients
ConclusionThis collaborative study improves genetic counselling in BG, facilitates introduction of multitier CF neonatal screening and fosters public health measures for improvement of care in the Roma CF population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 27, 2019 Category: Genetics & Stem Cells Authors: Guergana Petrova, Nadezhda Yaneva, Jana Hrbkov á, Malgorzata Libik, Alexey Savov, Milan Macek Tags: ORIGINAL ARTICLE Source Type: research

The role of FOXO3 polymorphisms in susceptibility to tuberculosis in a Chinese population
ConclusionsOur study showed that rs3800229 and rs4946935 inFOXO3 were associated with a risk of TB in the Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 26, 2019 Category: Genetics & Stem Cells Authors: Bo Wang, Yuhe Wang, Li Wang, Xue He, Yongjun He, Mei Bai, Linhao Zhu, Jianwen Zheng, Dongya Yuan, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research