Noonan syndrome ‐associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish
ConclusionOur novel zebrafish model phenocopied human recessive Noonan syndrome and supported the loss ‐of‐function mechanism of disease‐causingLZTR1 variants. The discovery of vascular malformations in mutants calls for the clinical follow ‐up of patients to monitor for its emergence. The model will serve as a novel platform for investigating the pathophysiology linking RAS/MAPK signaling to cardiac and vascular pathology. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 27, 2019 Category: Genetics & Stem Cells Authors: Yu Nakagama, Norihiko Takeda, Seishi Ogawa, Hiroyuki Takeda, Yoshiyuki Furutani, Toshio Nakanishi, Tatsuyuki Sato, Yoichiro Hirata, Akira Oka, Ryo Inuzuka Tags: ORIGINAL ARTICLE Source Type: research

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers
ConclusionsHeterozygousPDLIM5 variants are rare and therefore will not have a major contribution in DCM. Although they likely play a role in disease development as this gene plays a major role in contracting cardiomyocytes and homozygous variants lead to early ‐onset cardiac disease. Other environmental and/or genetic factors are probably necessary to unveil the cardiac phenotype inPDLIM5 mutation carriers. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 26, 2019 Category: Genetics & Stem Cells Authors: Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur Wijngaard, Jan F. C. Glatz, Stephane R. B. Heyman Tags: ORIGINAL ARTICLE Source Type: research

Lessons learned from expanded reproductive carrier screening in self ‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients
ConclusionFor maximal carrier identification, this study supports using expanded NGS panels for individuals of all Jewish backgrounds. This approach can better empower at ‐risk couples for reproductive decision making. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 26, 2019 Category: Genetics & Stem Cells Authors: Gidon Akler, Ashley H. Birch, Nicole Schreiber ‐Agus, Xiaoqiang Cai, Guiqing Cai, Lisong Shi, Chunli Yu, Anastasia M. Larmore, Geetu Mendiratta‐Vij, Lama Elkhoury, Mitchell W. Dillon, Jun Zhu, Andrew S. Mclellan, Funda E. Suer, Bryn D. W Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity
ConclusionWe found a homozygous mutation in exon 4 of NIPAL4 c.534A>C (p.E178D), which was identified for the first time in our study. Bioinformatic investigations supported its involvement in the phenotype of patients with CIE. Interestingly, this mutation was located in the hypothetical transport channel cavity and leads to changes in the channel architecture, which would probably affect its transport function. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 25, 2019 Category: Genetics & Stem Cells Authors: Sahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, Nabil Miled, Mariem Ennouri, Judith Fischer, Mohamed Ali Kaddechi, Hamida Turki, Faiza Fakhfakh Tags: ORIGINAL ARTICLE Source Type: research

VPS13D ‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia
ConclusionIn the present study, we found four patients in three Japanese families with novelVPS13D mutations, which may broaden the clinical and genetic findings forVPS13D‐related disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 25, 2019 Category: Genetics & Stem Cells Authors: Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama Tags: CLINICAL REPORT Source Type: research

Forensic characteristics and genetic affinity analyses of Xinjiang Mongolian group using a novel six fluorescent dye ‐labeled typing system including 41 Y‐STRs and 3 Y‐InDels
Investigating genetic characteristics of the Mongolian group using 41 Y ‐chromosomal short tandem repeat and 3 insertion/deletion molecular genetic markers. Exploring the genetic relationships between the Mongolian group and 23 comparison populations from China, as well as between the Mongolian group and 33 comparison populations from worldwide nations. AbstractBackgroundY ‐chromosomal genetic marker haplotypes of individuals can define the paternal kinship or genealogies to which they belong and further provide clues for forensic individual identifications. Studying the genetic structure of the Mongolian group wi...
Source: Molecular Genetics & Genomic Medicine - December 25, 2019 Category: Genetics & Stem Cells Authors: Yanfang Liu, Tingting Yu, Shuyan Mei, Xiaoye Jin, Qiong Lan, Yongsong Zhou, Yating Fang, Tong Xie, Jiabin Huang, Bofeng Zhu Tags: ORIGINAL ARTICLE Source Type: research

Novel VAC14 variants identified in two Chinese siblings with childhood ‐onset striatonigral degeneration
ConclusionWe present novel compound heterozygous variants (c.1744G>A/c.2042G>A) in our proband, and these novel variants were predicted to be likely pathogenic. The affected siblings were clinically severe and lethal; their phenotypes were similar to the majority of previously reported SNDC cases, with the exception of two cases that showed mild clinical manifestations.VAC14 pathogenic variants may be associated with various phenotypes. Herein, we report the Chinese siblings with SNDC, they are the first Asian cases. Our results expanded the spectrum ofVAC14 pathogenic variants and the ethnic backgrounds of the affec...
Source: Molecular Genetics & Genomic Medicine - December 25, 2019 Category: Genetics & Stem Cells Authors: Shuang Liao, Tingting Chen, Ying Dai, Yanqin Wang, Fangrui Wu, Min Zhong Tags: ORIGINAL ARTICLE Source Type: research

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort
ConclusionsBy investigating 26 Chinese cases of CdLS, we observed that the clinical data and gene variants in the Chinese cohort of CdLS patients were generally in accordance with those of other populations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 23, 2019 Category: Genetics & Stem Cells Authors: Shuo Li, Hui Miao, Hongbo Yang, Linjie Wang, Fengying Gong, Shi Chen, Huijuan Zhu, Hui Pan Tags: ORIGINAL ARTICLE Source Type: research

Evidence of positively selected G6PD A ‐ allele reduces risk of Plasmodium falciparum infection in African population on Bioko Island
In this work, we firstly analysed a large case –control study of 342 malaria cases and 1,287 health controls on Bioko Island, Equatorial Guinea. Our findings demonstrate G6PD A‐ allele could reduce the risk ofPlasmodium falciparum infection in African population and indicate malaria has recent positive selection on G6PD A ‐ allele. AbstractBackgroundGlucose ‐6‐phosphate dehydrogenase (G6PD) is an essential enzyme that protects red blood cells from oxidative damage. Although G6PD‐deficient alleles appear to confer a protective effect of malaria, the link with clinical protection againstPlasmodium infection i...
Source: Molecular Genetics & Genomic Medicine - December 23, 2019 Category: Genetics & Stem Cells Authors: Xue ‐Yan Liang, Jiang‐Tao Chen, Yan‐Bo Ma, Hui‐Ying Huang, Dong‐De Xie, Santiago‐m Monte‐Nguba, Carlos Salas Ehapo, Urbano Monsuy Eyi, Yu‐Zhong Zheng, Xiang‐Zhi Liu, Guang‐Cai Zha, Li‐Yun Lin, Wei‐Zhong Chen, Xia Zhou, Tags: ORIGINAL ARTICLE Source Type: research

When moments matter: Finding answers with rapid exome sequencing
ConclusionsOur observations demonstrate the utility and effectiveness of rapid family ‐based diagnostic exome sequencing in improving patients care. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 23, 2019 Category: Genetics & Stem Cells Authors: Z öe Powis, Kelly D. Farwell Hagman, Kirsten Blanco, Margaret Au, John M. Graham, Kathryn Singh, Natalie Gallant, Linda M. Randolph, Meghan Towne, Jesse Hunter, Deepali N. Shinde, Erika Palmaer, Brian Schoenfeld, Sha Tang Tags: ORIGINAL ARTICLE Source Type: research

Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling
ConclusionsIn summary, ctDNA monitoring, particularly longitudinal analyses, provides valuable insights into the assessment of targeted therapy efficacy and gene alterations underlying trastuzumab resistance and chemotherapy resistance in HER2+ and HER2 ‐ BC patients, respectively. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 22, 2019 Category: Genetics & Stem Cells Authors: Zhanhong Chen, Tian Sun, Ziyan Yang, Yabing Zheng, Ruoying Yu, Xue Wu, Junrong Yan, Yang W Shao, Xiying Shao, Wenming Cao, Xiaojia Wang Tags: ORIGINAL ARTICLE Source Type: research

The role of race and ethnicity in views toward and participation in genetic studies and precision medicine research in the United States: A systematic review of qualitative and quantitative studies
ConclusionResults could influence future study designs that incorporate all levels of the Socio ‐Ecological Model and better meet the needs of underrepresented groups, thereby ensuring precision medicine research findings are applicable to all. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 22, 2019 Category: Genetics & Stem Cells Authors: Elena R. Fisher, Rebekah Pratt, Riley Esch, Megan Kocher, Katie Wilson, Whiwon Lee, Heather A. Zierhut Tags: ORIGINAL ARTICLE Source Type: research

An innovative panel containing a set of insertion/deletion loci for individual identification and its forensic efficiency evaluations in Chinese Hui ethnic minority
ConclusionThe forensic statistical analyses revealed these loci showed relatively high genetic polymorphisms in Chinese Hui group,  and could be served as a useful tool for individual identifications in Hui group. Population genetic evaluations indicated that Chinese Hui group had close genetic relationships with East Asian populations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 21, 2019 Category: Genetics & Stem Cells Authors: Wei Cui, Xiaoye Jin, Yuxin Guo, Chong Chen, Wenqing Zhang, Tingting Kong, Haotian Meng, Bofeng Zhu Tags: ORIGINAL ARTICLE Source Type: research

Circular RNA circ ‐CMPK1 contributes to cell proliferation of non‐small cell lung cancer by elevating cyclin D1 via sponging miR‐302e
ConclusionOur data demonstrate for the first time that circ ‐CMPK1/miR‐302e/cyclin D1 signaling plays an essential regulatory role in NSCLC and targeting this axis may be an efficacious avenue for treatment of NSCLC patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 20, 2019 Category: Genetics & Stem Cells Authors: Dong Cui, Runlin Qian, Yin Li Tags: ORIGINAL ARTICLE Source Type: research

Variation at ACOT12 and CT62 locus represents susceptibility to psoriasis in Han population
In this study, we determined the mutation frequency of 7 variable genes in 1,027 psoriatic patients and investigated its possible mechanism associated with psoriasis. AbstractBackgroundPsoriasis is a chronic inflammatory disorder of the skin, and genetic factors are reported to be involved in the disease pathogenesis. Many studies have named psoriasis candidate genes.ObjectiveIn this study, we determined the mutation frequency of 7 variable genes in 1,027 psoriatic patients and investigated its possible mechanism associated with psoriasis.MethodA total of 7 variable genes from 1,027 psoriatic patients were amplified and se...
Source: Molecular Genetics & Genomic Medicine - December 19, 2019 Category: Genetics & Stem Cells Authors: Jianxiao Xing, Xincheng Zhao, Xiaofang Li, Ying Wang, Junqin Li, Ruixia Hou, Xuping Niu, Guohua Yin, Xinhua Li, Kaiming Zhang Tags: ORIGINAL ARTICLE Source Type: research

Over expression of METRN predicts poor clinical prognosis in colorectal cancer
Overexpression of meteorin (METRN) is associated with colorectal cancer and can predict poor prognosis of colorectal cancer. AbstractBackgroundThe role of meteorin (METRN) in colorectal cancer has not been reported previously. We aimed to explore the relationship betweenMETRN and colorectal cancer (CRC) prognosis.MethodsData were retrieved from the Gene Expression Omnibus database. Gene expression values were log2 transformed and normalized by quantile normalization. Missing values were imputed with the R impute package. Differentially expressed genes were analyzed using the R limma package.METRN expression was compared be...
Source: Molecular Genetics & Genomic Medicine - December 19, 2019 Category: Genetics & Stem Cells Authors: Xin Xu, Chihao Zhang, Yan Xia, Jiwei Yu Tags: ORIGINAL ARTICLE Source Type: research

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array ‐based detection rate
ConclusionsOur retrospective study resulted in confirming the high detection rate of CMA and indicated new clinical markers useful to optimize their inclusion in the diagnostic and rehabilitative path of patients with developmental phenotypes. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 17, 2019 Category: Genetics & Stem Cells Authors: Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico C Tags: ORIGINAL ARTICLE Source Type: research

Gene ‐by‐gene interactions associated with the risk of conotruncal heart defects
ConclusionFurther studies with larger sample sizes are needed to confirm and elucidate these potential interactions. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 17, 2019 Category: Genetics & Stem Cells Authors: Chen Lyu, Daniel M. Webber, Stewart L. MacLeod, Charlotte A. Hobbs, Ming Li, the National Birth Defects Prevention Study Tags: ORIGINAL ARTICLE Source Type: research

Circ_0000267 promotes gastric cancer progression via sponging MiR ‐503‐5p and regulating HMGA2 expression
ConclusionCirc_0000267 is an oncogenic circRNA that affects the progression of GC, which participates in promotion of GC proliferation, migration, invasion, and EMT via modulating the miR ‐503‐5p/HMGA2 axis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 16, 2019 Category: Genetics & Stem Cells Authors: Xiaopeng Cai, Jiayan Nie, Liangdong Chen, Fang Yu Tags: ORIGINAL ARTICLE Source Type: research

Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations
ConclusionOur study shows that it is important to perform clinical genetic investigations, including CNV analysis, in patients with congenital gastrointestinal malformations since this leads to improved information to families as well as an increased understanding of the pathogenesis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 13, 2019 Category: Genetics & Stem Cells Authors: Johanna Winberg, Peter Gustavsson, Ellika Sahlin, Magnus Larsson, Henrik Ehr én, Magdalena Fossum, Tomas Wester, Ann Nordgren, Agneta Nordenskjöld Tags: ORIGINAL ARTICLE Source Type: research

Hypomethylation of MIR ‐378 5’‐flanking region predicts poor survival in young patients with myelodysplastic syndrome
Hypomethylation level ofMIR ‐378 was significantly higher in myelodysplastic syndrome (MDS) patients than that in controls (p = .034).MIR ‐378‐hypomethylated patients had significantly shorter overall survival than those withoutMIR ‐378 hypomethylation (p = .036). Both Kaplan–Meier and Multivariate Cox analyses confirmed that hypomethylation ofMIR ‐378 5 ’‐flanking region is an adverse prognosticator in MDS, particularly in patients
Source: Molecular Genetics & Genomic Medicine - December 12, 2019 Category: Genetics & Stem Cells Authors: De ‐hong Wu, Xiao‐wen Zhu, Xiang‐mei Wen, Ying‐ying Zhang, Ji‐chun Ma, Dong‐ming Yao, Jing‐dong Zhou, Hong Guo, Peng‐fei Wu, Xing‐li Zhang, Hong‐chun Qiu, Jiang Lin, Jun Qian Tags: ORIGINAL ARTICLE Source Type: research

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis
ConclusionOur findings not only broaden the mutational spectrum of PNPLA1, but also contribute to establishing genotype –phenotype correlations for different forms of ARCI. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 12, 2019 Category: Genetics & Stem Cells Authors: Liangshan Li, Wenmiao Liu, Yinglei Xu, Miaomiao Li, Qian Tang, Bo Yu, Renmei Cai, Shiguo Liu Tags: ORIGINAL ARTICLE Source Type: research

Candidate modifier genes for immune function in 22q11.2 deletion syndrome
ConclusionThe expression ofTBX1, which seems to confer the major phenotypic features of 22q11.2DS, is regulated via retinoic acid signaling, and alterations in retinoic acid signaling during embryonic development can lead to phenocopies of 22q11.2DS. These observations support the hypothesis that genetic modifiers outside the microdeletion locus may influence the immune function in 22q11.2DS patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 11, 2019 Category: Genetics & Stem Cells Authors: Catherina T. Pinnaro, Travis Henry, Heather J. Major, Mrutyunjaya Parida, Lucy E. DesJardin, John R. Manak, Benjamin W. Darbro Tags: ORIGINAL ARTICLE Source Type: research

Multi ‐institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms
ConclusionThe Ecuadorian National Registry of Chromosome Alterations and Polymorphisms provides a baseline to better understand chromosomal abnormalities in Ecuador and therefore their clinical management and awareness. This data will guide public policy makers to promote and financially support cytogenetic and genetic testing. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 11, 2019 Category: Genetics & Stem Cells Authors: C ésar Paz‐y‐Miño, Verónica Yumiceba, Germania Moreta, Rosario Paredes, Mónica Ruiz, Ligia Ocampo, Arianne Llamos Paneque, Catalina Ochoa Pérez, Juan Carlos Ruiz‐Cabezas, Jenny Álvarez Vidal, Idarmis Jiménez Torres, Ramón Vargas Tags: ORIGINAL ARTICLE Source Type: research

Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection
This study increase our understanding of the FBN1 gene mutation spectrum in Chinese patients with MFS. We found that frameshift mutations were more common in patients with aortic dissection and that the aortic wall structure contained fewer elastic fibers and fewer and more disordered smooth muscle cells. AbstractBackgroundMarfan syndrome (MFS) is an inherited connective tissue disease that mainly involves Fibrillin ‐1 (FBN1) mutations and aortic manifestations. In this study, we investigated the correlations between the FBN1 genotype–phenotype and aortic events (aortic dissection and aortic aneurysm) in patients w...
Source: Molecular Genetics & Genomic Medicine - December 11, 2019 Category: Genetics & Stem Cells Authors: Shijun Xu, Lei Li, Yuwei Fu, Xin Wang, Hairui Sun, Jianbin Wang, Lu Han, Zining Wu, Yongmin Liu, Junming Zhu, Lizhong Sun, Feng Lan, Yihua He, Hongjia Zhang Tags: ORIGINAL ARTICLE Source Type: research

Novel FSHR variants causing female resistant ovary syndrome
ConclusionWe found two novel pathogenicFSHR variants causing resistant ovarian syndrome. This study expands the genotypic spectrum of pathogenicFSHR variants and our knowledge of phenotype –genotype correlations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 11, 2019 Category: Genetics & Stem Cells Authors: Shuzin Khor, Qifeng Lyu, Yanping Kuang, Xuefeng Lu Tags: ORIGINAL ARTICLE Source Type: research

MiR ‐338 regulates NFATc1 expression and inhibits the proliferation and epithelial‐mesenchymal transition of human non‐small‐cell lung cancer cells
ConclusionsOverexpression of miR ‐338 inhibited cell proliferation and EMT of NSCLC cells by directly down‐regulating NFATc1 expression. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 10, 2019 Category: Genetics & Stem Cells Authors: Wei He, Jibin Lu Tags: ORIGINAL ARTICLE Source Type: research

Development of a new methylation ‐based fetal fraction estimation assay using multiplex ddPCR
ConclusionBy employing a set of well ‐characterized DMRs, we developed a SNP‐, sex‐ and ploidy‐independent methylation‐based multiplex ddPCR assay for accurate fetal fraction estimation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 9, 2019 Category: Genetics & Stem Cells Authors: Marios Ioannides, Achilleas Achilleos, Skevi Kyriakou, Elena Kypri, Charalambos Loizides, Kyriakos Tsangaras, Louiza Constantinou, George Koumbaris, Philippos C. Patsalis Tags: ORIGINAL ARTICLE Source Type: research

A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information
ConclusionsThe application of the pipeline will contribute to supporting the interpretation of pathogenicity of human mitochondrial variants by facilitating diagnosis to clinicians and researchers faced with this task. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 9, 2019 Category: Genetics & Stem Cells Authors: Ornella Vitale, Roberto Preste, Donato Palmisano, Marcella Attimonelli Tags: ORIGINAL ARTICLE Source Type: research

Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India
ConclusionDespite inherent limitations in clinical testing, the diagnostic rate across the two cohorts (52%) was similar to the 50% –65% diagnostic rate in the literature. However, the diagnostic rate was lower in the US cohort and appears partly explained by racial background. The high rate of consanguinity in the Indian population is reflected in the high rate of homozygosity for pathogenic mutations and may have implication s for population level screening and genetic counseling. Clinical laboratories may note diagnostic rates that differ from the literature, due to factors such as heterogeneity in racial backgrou...
Source: Molecular Genetics & Genomic Medicine - December 8, 2019 Category: Genetics & Stem Cells Authors: Sophia Yohe, Malaichamy Sivasankar, Anuprita Ghosh, Arkasubhra Ghosh, Jennifer Holle, Sakthivel Murugan, Ravi Gupta, Lisa A. Schimmenti, Ramprasad Vedam, Bharat Thyagarajan Tags: ORIGINAL ARTICLE Source Type: research

MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome
ConclusionThis is probably because the variants inMECP2 exon 3 or 4 disrupt both isoforms of MeCP2, whereas the variant in exon 1, as presented in this study, disrupts only MeCP2_e1 but not MeCP2_e2. Therefore, our findings indicate that MeCP2_e2 may partially compensate for a deficiency in MeCP2_e1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 8, 2019 Category: Genetics & Stem Cells Authors: Ryo Takeguchi, Satoru Takahashi, Mami Kuroda, Ryosuke Tanaka, Nao Suzuki, Yuko Tomonoh, Yukiko Ihara, Nobuyoshi Sugiyama, Masayuki Itoh Tags: CLINICAL REPORT Source Type: research

Association of polymorphism in heat shock protein 70 genes with type 2 diabetes in Bangladeshi population
ConclusionsHSP70 ‐hom + 2,437 T/C polymorphism was found to be significantly associated with T2DM incidence in the Bangladeshi population in both stress‐dependent and independent manners. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 8, 2019 Category: Genetics & Stem Cells Authors: Md. Moniruzzaman, Irfan Ahmed, Saaimatul Huq, Md. Shakur All Mahmud, Sonya Begum, U.S. Mahzabin Amin, Md. Hadisur Rahman, Palash Kumar Sarker, Mohammad Uzzal Hossain, Keshob Chandra Das, Md. Salimullah Tags: ORIGINAL ARTICLE Source Type: research

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

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
We present the first patient described with haploinsufficency ofKMT2D leading to Kabuki syndrome. Deletion ofKMT2D has been thought to be lethal, but here we describe a patient withKMT2D deletion and classical Kabuki syndrome phenotype. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 7, 2019 Category: Genetics & Stem Cells Authors: Teresa Romeo Luperchio, Carolyn D. Applegate, Olaf Bodamer, Hans Tomas Bjornsson Tags: LETTER TO THE EDITOR Source Type: research

Genetic polymorphism and phylogenetic analyses of 21 non ‐CODIS STR loci in a Chinese Han population from Shanghai
ConclusionsThe 21 STR loci exhibited high genetic polymorphism in the studied Shanghai_Han population and could be used for forensic applications and population genetic studies. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 7, 2019 Category: Genetics & Stem Cells Authors: Zhihan Zhou, Chengchen Shao, Jianhui Xie, Hongmei Xu, Yidong Liu, Yueqin Zhou, Zhiping Liu, Ziqin Zhao, Qiqun Tang, Kuan Sun Tags: ORIGINAL ARTICLE Source Type: research

Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia
ConclusionThe nonsense pathogenic variant, NM_172250.2:c.742C>T (p.Gln248*), carried by the patient leads to a premature termination of transcription of the gene, thereby resulting in partial loss of protein function while retaining some others. Segmental UPD 4 is rare, and to our knowledge, has not been reported previously. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 1, 2019 Category: Genetics & Stem Cells Authors: Min Chen, Hu Hao, Hui Xiong, Yao Cai, Fei Ma, Congcong Shi, Xin Xiao, Sitao Li Tags: CLINICAL REPORT Source Type: research

Effects of consanguinity in a cohort of subjects with certain genetic disorders in Qatar
ConclusionOur data suggest a significant role of parental consanguinity in increasing the prevalence of genetic disorders; mainly Autosomal Recessive disorders. Chromosomal abnormality disorders were significantly higher among nonconsanguineous marriages. These results help better inform policy makers on social, educational, and public health initiatives that might mitigate the impact of genetic disease in the Qatari society. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 1, 2019 Category: Genetics & Stem Cells Authors: Tawfeg Ben ‐Omran, Kaltham Al Ghanim, Tarunashree Yavarna, Maha El Akoum, Muthanna Samara, Prem Chandra, Nader Al‐Dewik Tags: ORIGINAL ARTICLE Source Type: research

Two cases of von Willebrand disease type 3 in consanguineous Chinese families
ConclusionsWe identified VWD type 3 in two consanguineous marriage families, and our work further strengthen the risk of delivering disorders inherited in AR manner in populations with frequent consanguineous partnerships. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 1, 2019 Category: Genetics & Stem Cells Authors: Xiong Wang, Ning Tang, Yanjun Lu, Qun Hu, Dengju Li Tags: ORIGINAL ARTICLE Source Type: research

Social and medical need for whole genome high resolution NIPT
ConclusionSince the frequency of syndromic disorders caused by microdeletions/microduplications is substantial and current routine NIPT and ultrasound investigations are not able to detect them, we suggest that a noninvasive test with resolution comparable to microarrays should be developed, which will also meet patient's needs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 30, 2019 Category: Genetics & Stem Cells Authors: Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Lutgarde C. P. Govaerts, Marike Polak, Marieke Joosten, Karin E. M. Diderich, Laura J. C. M. van Zutven, Krista A. K. E. Prinsen, Sam Riedijk, Attie T. J. I. Go, Robert ‐Jan H. Galjaard, Lies H Tags: ORIGINAL ARTICLE Source Type: research

Relationship between HLA ‐DPA1 genetic polymorphism and anembryonic pregnancy
ConclusionHLA ‐DPA1 rs1431403 may be a risk factor for anembryonic pregnancy in the Chinese population. Homozygous rs1431403 genotypes (CC and TT) may increase the risk of anembryonic pregnancy by aberrantly increasing the HLA ‐DPA1 levels. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 29, 2019 Category: Genetics & Stem Cells Authors: Zhendong Wang, Xiaolin Lu, Xiuying Yao, Xinli Liu, Linlin Zhao, Shaoyan Chang, Ting Zhang, Bo Niu, Li Wang Tags: ORIGINAL ARTICLE Source Type: research

LncRNA DLX6 ‐AS1 increases the expression of HIF‐1α and promotes the malignant phenotypes of nasopharyngeal carcinoma cells via targeting MiR‐199a‐5p
ConclusionWe found that DLX6 ‐AS1 was a cancer‐promoting lncRNA to facilitate the progression of NPC, and its underlying mechanism was suppressing miR‐199a‐5p expression. This study can provide novel clues for the treatment of NPC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 28, 2019 Category: Genetics & Stem Cells Authors: Bin Yang, Lin Jin, Hui Ren, Caibao Jin, Qingrong Ren, Haiyuan Zhang, Desheng Hu, Hao Zhang, Liu Hu, Tao Xie Tags: ORIGINAL ARTICLE Source Type: research

A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect
ConclusionTheRAD51C c.571  + 4A >  G variant affects mRNA splicing and should be re‐classified as pathogenic according to American College of Medical Genetics and Genomics guidelines. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 27, 2019 Category: Genetics & Stem Cells Authors: Lesa M. Dawson, Kerri N. Smith, Salem Werdyani, Robyn Ndikumana, Cindy Penney, Louisa L. Wiede, Kendra L. Smith, Justin A. Pater, Andr ée MacMillan, Jane Green, Sheila Drover, Terry‐Lynn Young, Darren D. O’Rielly Tags: ORIGINAL ARTICLE Source Type: research

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1
ConclusionWe provide direct evidence that a dominant ‐negative interaction of FBN1 potentially explains the complex MPLS phenotypes through genetic and functional analysis. Our study expands the mutation spectrum ofFBN1 and highlights the potential molecular mechanism for MPLS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 26, 2019 Category: Genetics & Stem Cells Authors: Mao Lin, Zhenlei Liu, Gang Liu, Sen Zhao, Chao Li, Weisheng Chen, Zeynep Coban Akdemir, Jiachen Lin, Xiaofei Song, Shengru Wang, Qiming Xu, Yanxue Zhao, Lianlei Wang, Yuanqiang Zhang, Zihui Yan, Sen Liu, Jiaqi Liu, Yixin Chen, Yuzhi Zuo, Tags: ORIGINAL ARTICLE Source Type: research

Diagnostic accuracy of midkine for hepatocellular carcinoma: A meta ‐analysis
ConclusionMidkine has moderate diagnostic accuracy for HCC. Due to the design limitations, results inpublished studies should be carefully interpreted. In addition, more well ‐designed studies with large sample sizes should be performed to rigorously evaluate the diagnostic accuracy of the MDK. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 26, 2019 Category: Genetics & Stem Cells Authors: Yu Zhang, Juan Tang, Xiao Zhou, Shao ‐Liang Zhu, Le‐Qun Li Tags: REVIEW ARTICLE Source Type: research

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy
ConclusionsOur findings expand the mutation spectrum ofABCD1 and indicate that ALD represent a significant portion (4.9%, 7/142) of the spastic paraplegia entities. ALD should be considered in male patients with spastic paraplegia, even if there was no positive family history. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 26, 2019 Category: Genetics & Stem Cells Authors: Wen ‐Jiao Luo, Qiao Wei, Hai‐Lin Dong, Yang‐Tian Yan, Mei‐Jiao Chen, Hong‐Fu Li Tags: ORIGINAL ARTICLE Source Type: research

Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings
ConclusionThis study indicated that the novel mutation may be responsible for the occurrence of multiple uterine leiomyomas. However, the risk of renal disease should not be ignored and regular screening was recommended. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 25, 2019 Category: Genetics & Stem Cells Authors: Zichen Zhao, Wenhui Wang, Yan You, Lan Zhu, Fengzhi Feng Tags: CLINICAL REPORT Source Type: research

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree
ConclusionsA novel compound heterozygousIDUA mutation (c.1815dupT, p.V606Cfs51*) was found in a Chinese MPS I family. The identification of the mutation facilitated accurate genetic counseling and precise medical intervention for MPS I in China. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 22, 2019 Category: Genetics & Stem Cells Authors: Yong ‐An Zhou, Ping Li, Yanping Zhang, Qiuhong Xiong, Chao Li, Zhonghua Zhao, Yuxian Wang, Han Xiao Tags: CLINICAL REPORT Source Type: research

A new frameshift mutation in L1CAM producing X ‐linked hydrocephalus
ConclusionWe identified a novel disease ‐causing mutation inL1CAM for the first time, which further confirmedL1CAM as a gene underlying XLH cases. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 21, 2019 Category: Genetics & Stem Cells Authors: Weiqi Kong, Xueyan Wang, Jing Zhao, Min Kang, Na Xi, Shengmei Li Tags: ORIGINAL ARTICLE Source Type: research

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy –Walker malformation
ConclusionsThe present case confirmed WES as a reliable tool for the prenatal identification of the molecular bases of early ‐detected CNS malformations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 21, 2019 Category: Genetics & Stem Cells Authors: Alice Traversa, Silvia Bernardo, Alessandro Paiardini, Agnese Giovannetti, Enrica Marchionni, Maria Luce Genovesi, Daniele Guadagnolo, Barbara Torres, Stefano Paolacci, Laura Bernardini, Tommaso Mazza, Massimo Carella, Viviana Caputo, Antonio Tags: CLINICAL REPORT Source Type: research

The SNP rs4846048 of MTHFR enhances the cervical cancer risk through association with miR ‐522: A preliminary report
ConclusionThe preliminary report revealed that the SNP rs4846048 ofMTHFR enhanced the risk of CC through association with miR ‐522, which further regulated cell viability and apoptosis in Hela cells. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 20, 2019 Category: Genetics & Stem Cells Authors: Xinyue Zhou, Lili Shan, Jing Na, Ya Li, Jun Wang Tags: ORIGINAL ARTICLE Source Type: research