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Article

Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.

Journal of human genetics - 1 May 2016

Yoshimura Hidekane, Miyagawa Maiko, Kumakawa Kozo, Nishio Shin-Ya, Usami Shin-Ichi

Abstract excerpt

Usher syndrome type 1 (USH1) is the most severe of the three USH subtypes due to its profound hearing loss, absent vestibular response and retinitis pigmentosa appearing at a prepubescent age. Six causative genes have been identified for USH1, making early diagnosis and therapy possible through DNA testing. Targeted exon sequencing of selected genes using massively parallel DNA sequencing (MPS) technology enables...

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Identifiers

PMID: 26791358
DOI: 10.1038/jhg.2015.168
PMCID: PMC4893503

Genes

CDH23
PCDH15

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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