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Article

A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.

Molecular medicine reports - 1 Oct 2017

Xia Hong, Hu Pengzhi, Yuan Lamei, Xiong Wei, Xu Hongbo, Yi Junhui, Yang Zhijian, Deng Xiong, Guo Yi, Deng Hao

Abstract excerpt

Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in...

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Source

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PMID: 28731162
DOI: 10.3892/mmr.2017.7053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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