| Literature DB >> 29559740 |
Yuyuan Deng1,2,3, Zhijie Niu1, LiangLiang Fan2, Jie Ling4, Hongsheng Chen1,3, Xinzhang Cai1, Lingyun Mei1,3, Chufeng He1, Xuewei Zhang5, Jie Wen1, Meng Li2, Wu Li2, Taoxi Li2, Shushan Sang2, Yalan Liu6,7, Yong Feng8,9,10.
Abstract
X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SLC26A4, a novel truncated variant of SMPX, c.87dupA (p.Gly30Argfs*12) (NCBI ClinVar Submission ID: SUB3136126), was identified by whole-exome sequencing. This variant was co-segregated with hearing loss in the entire family and was absent in 576 unrelated ethnically and geographically matched controls. We also detected a single nucleotide variation in two male controls with normal hearing, SMPX c.55A>G (p.Asn19Asp), which has been annotated as a rare variant in the Single Nucleotide Polymorphism (dbSNP) (rs759552778) and Exome Aggregation Consortium (ExAC) databases. This study has enriched the mutation spectrum of the SMPX gene.Entities:
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Year: 2018 PMID： 29559740 DOI： 10.1038/s10038-018-0443-x
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172