期刊
JOURNAL OF MEDICAL GENETICS
卷 37, 期 1, 页码 41-43出版社
BRITISH MED JOURNAL PUBL GROUP
DOI: 10.1136/jmg.37.1.41
关键词
connexin 26; GJB2; Japanese; nonsyndromic hearing loss
资金
- NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS [P01DC001813] Funding Source: NIH RePORTER
- NIDCD NIH HHS [P01 DC01813] Funding Source: Medline
The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations have been reported so far. This paper presents mutation analysis for GJB2 in Japanese non-syndromic hearing loss patients compatible with recessive inheritance. It was confirmed that GJB2 mutations are an important cause of hearing loss in this population, with three mutations, 235delC, Y136X, and R143W, especially frequent. Of these three mutations, 235delC was most prevalent at 73%. Surprisingly, the 35delG mutation, which is the most common GJB2 mutation in white subjects, was not found in the present study. Our data indicated that specific combinations of GJB2 mutation exist in different populations.
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