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Article

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

Journal of human genetics - 1 Jun 2018

Deng Yuyuan, Niu Zhijie, Fan LiangLiang, Ling Jie, Chen Hongsheng, Cai Xinzhang, Mei Lingyun, He Chufeng, Zhang Xuewei, Wen Jie, Li Meng, Li Wu, Li Taoxi, Sang Shushan, Liu Yalan, Feng Yong

Abstract excerpt

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:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29559740
DOI: 10.1038/s10038-018-0443-x

Genes

SMPX
GJB2

Variants

Provenance

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