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A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

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.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Deng Y,Niu Z,Fan L,Ling J,Chen H,Cai X,Mei L,He C,Zhang X,Wen J,Li M,Li W,Li T,Sang S,Liu Y,Feng Y

doi

10.1038/s10038-018-0443-x

subject

Has Abstract

pub_date

2018-06-01 00:00:00

pages

723-730

issue

6

eissn

1434-5161

issn

1435-232X

pii

10.1038/s10038-018-0443-x

journal_volume

63

pub_type

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