Document Detail

Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.
MedLine Citation:
PMID:  20844544     Owner:  NLM     Status:  MEDLINE    
Usher syndrome (USH) is an autosomal recessive disorder characterized by retinitis pigmentosa and hearing loss. USH type 1 (USH1), the second common type of USH, is frequently caused by MYO7A and CDH23 mutations, accounting for 70-80% of the cases among various ethnicities, including Caucasians, Africans and Asians. However, there have been no reports of mutation analysis for any responsible genes for USH1 in Japanese patients. This study describes the first mutation analysis of MYO7A and CDH23 in Japanese USH1 patients. Five mutations (three in MYO7A and two in CDH23) were identified in four of five unrelated patients. Of these mutations, two were novel. One of them, p.Tyr1942SerfsX23 in CDH23, was a large deletion causing the loss of 3 exons. This is the first large deletion to be found in CDH23. The incidence of the MYO7A and CDH23 mutations in the study population was 80%, which is consistent with previous findings. Therefore, mutation screening for these genes is expected to be a highly sensitive method for diagnosing USH1 among the Japanese.
Hiroshi Nakanishi; Masafumi Ohtsubo; Satoshi Iwasaki; Yoshihiro Hotta; Yoshinori Takizawa; Katsuhiro Hosono; Kunihiro Mizuta; Hiroyuki Mineta; Shinsei Minoshima
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-09-16
Journal Detail:
Title:  Journal of human genetics     Volume:  55     ISSN:  1435-232X     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-12-23     Completed Date:  2011-03-25     Revised Date:  2012-07-11    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  796-800     Citation Subset:  IM    
Department of Otolaryngology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, Japan.
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MeSH Terms
Antigens, CD / genetics*
Asian Continental Ancestry Group
Base Sequence
Cadherins / genetics*
DNA Mutational Analysis
Myosins / genetics*
Usher Syndromes / genetics*
Reg. No./Substance:
0/Antigens, CD; 0/CDH2 protein, human; 0/Cadherins; EC; EC VIIa

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