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Article

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

PloS one - 1 Jan 2014

Yoshimura Hidekane, Iwasaki Satoshi, Nishio Shin-Ya, Kumakawa Kozo, Tono Tetsuya, Kobayashi Yumiko, Sato Hiroaki, Nagai Kyoko, Ishikawa Kotaro, Ikezono Tetsuo, Naito Yasushi, Fukushima Kunihiro, Oshikawa Chie, Kimitsuki Takashi, Nakanishi Hiroshi, Usami Shin-Ichi

Abstract excerpt

Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. Six of the corresponding genes have been identified, making early diagnosis through DNA...

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Source

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Identifiers

PMID: 24618850
DOI: 10.1371/journal.pone.0090688
PMCID: PMC3949687

Genes

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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