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Article

An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis.

International journal of pediatric otorhinolaryngology - 1 Feb 2013

Yoshimura Hidekane, Iwasaki Satoshi, Kanda Yukihiko, Nakanishi Hiroshi, Murata Toshinori, Iwasa Yoh-ichiro, Nishio Shin-ya, Takumi Yutaka, Usami Shin-ichi

Abstract excerpt

Usher syndrome type 1 (USH1) appears to have only profound non-syndromic hearing loss in childhood and retinitis pigmentosa develops in later years. This study examined the frequency of USH1 before the appearance of visual symptoms in Japanese deaf children by MYO7A mutation analysis. We report the case of 6-year-old male with profound hearing loss, who did not have visual symptoms. The frequency of MYO7A...

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Source

Identifiers

PMID: 23237960
DOI: 10.1016/j.ijporl.2012.11.007

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis.PMID 23237960Read ↗

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