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- Title
Clinical features of patients withGJB2(connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.
- Authors
Oguchi, Tomohiro; Ohtsuka, Akihiro; Hashimoto, Shigenari; Oshima, Aki; Abe, Satoko; Kobayashi, Yumiko; Nagai, Kyoko; Matsunaga, Tatsuo; Iwasaki, Satoshi; Nakagawa, Takashi; Usami, Shin-ichi
- Abstract
Mutations in theGJB2(connexin 26, Cx26) gene are the major cause of nonsyndromic hearing impairment in many populations. Genetic testing offers opportunities to determine the cause of deafness and predict the course of hearing, enabling the prognostication of language development. In the current study, we compared severity of hearing impairment in 60 patients associated with biallelicGJB2mutations and assessed the correlation of genotypes and phenotypes. Within a spectrum ofGJB2mutations found in the Japanese population, the phenotype of the most prevalent mutation, 235delC, was found to show more severe hearing impairment than that of V37I, which is the second most frequent mutation. The results of the present study, taken together with phenotypes caused by other types of mutations, support the general rule that phenotypes caused by the truncatingGJB2mutations are more severe than those caused by missense mutations. The present in vitro study further confirmed that differences in phenotypes could be explained by the protein expression pattern.
- Subjects
CONNEXINS; GAP junctions (Cell biology); GENETIC mutation; HEARING disorders; PHENOTYPES; MOLECULAR genetics
- Publication
Journal of Human Genetics, 2005, Vol 50, Issue 2, p76
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s10038-004-0223-7