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Article

Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.

Journal of human genetics - 1 Jul 2011

Nakanishi Hiroshi, Ohtsubo Masafumi, Iwasaki Satoshi, Hotta Yoshihiro, Usami Shin-Ichi, Mizuta Kunihiro, Mineta Hiroyuki, Minoshima Shinsei

Abstract excerpt

Usher syndrome (USH) is an autosomal recessive disorder characterized by retinitis pigmentosa and hearing loss. USH type 2 (USH2) is the most common type of USH and is frequently caused by mutations in USH2A. In a recent mutation screening of USH2A in Japanese USH2 patients, we identified 11 novel mutations in 10 patients and found the possible frequent mutation c.8559-2A>G in 4 of 10 patients. To obtain a more...

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PMID: 21593743
DOI: 10.1038/jhg.2011.45

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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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