Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome

AbstractCohen syndrome (CS) is an autosomal recessive congenital disorder characterized by mutation in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. In the current study, a Chinese family has two young sibling cases having a developmental delay, physical obesity, high myopia, and a special face, which suspected to be CS. The purpose of the study was to identify variants and further analyze their pathogenicity for CS. Next-generation sequencing (NGS) revealed a compound heterozygous mutation inVPS13B gene in the proband, which comprises a frameshift mutation in NM_017890.4: c.10076_10077delCA (p.T3359fs*29) and a putative splice site mutation in c.6940  + 1G >  T. Both Minigene assay in vitro and splicing assay in vivo confirmed that the splicing mutation in c.6940 + 1G >  T generates a frameshift transcript with whole exon 38 skipping. Eventually, quantitative real-time PCR demonstrated that either of the two mutations can lead to degradation of theVPS13B gene at the transcriptional level. Functional studies of variants identified in CS patients are essential for their subsequent genetic counseling and prenatal diagnoses and could also be the start point for new therapeutic approaches, currently based only on symptomatic treatment.
Source: Journal of Molecular Neuroscience - Category: Neuroscience Source Type: research

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Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: Children and Teens Exercise & Fitness Childhood Obesity Screen Time Summer Vacation Video Games Source Type: blogs
Hui-Min Liu1,2, Qin Hu3, Qiang Zhang4, Guan-Yue Su5, Hong-Mei Xiao1,2, Bo-Yang Li1,2, Wen-Di Shen1,2, Xiang Qiu1,2, Wan-Qiang Lv1,2 and Hong-Wen Deng1,2,6* 1Center of System Biology and Data Information, School of Basic Medical Science, Central South University, Changsha, China 2Center of Reproductive Health, School of Basic Medical Science, Central South University, Changsha, China 3Kangda College of Nanjing Medical University, Nanjing, China 4College of Public Health, Zhengzhou University, Zhengzhou, China 5Institute of Biomedical Engineering, West China School of Basic Medical Sciences and Forensic Medicine, ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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Source: The British Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Br J Ophthalmol Source Type: research
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Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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Source: blog.bioethics.net - Category: Medical Ethics Authors: Tags: Clinical Trials & Studies Genetics Health Regulation & Law Human Subjects Research & IRBs Media Reproductive Medicine Research Ethics genetic engineering Source Type: blogs
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Source: Healthy Living - The Huffington Post - Category: Consumer Health News Source Type: news
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