Abstract:
:Since the first identification of an association between mutations in the connexin26 (Cx26) gene and autosomal recessive non-syndromic deafness it has been shown that several mutations in this gene cause recessive, sporadic, and dominant non-syndromic deafness. Three novel mutations in the Cx26 gene were identified in four of 20 Japanese families with autosomal recessive non-syndromic deafness. Seven of 40 chromosomes contained a 233delC allele, while Tyr136Stop (408C-->A) and Gly45Glu (134G-->A) were detected in two of 40 chromosomes, respectively. These mutations were not found in chromosomes in cases of sporadic congenital deafness (0/60) or in control groups (0/100). This indicates that 27.5% (11/40 chromosomes) of cases of autosomal recessive non-syndromic deafness among the Japanese are caused by mutations in the Cx26 gene.
journal_name
Neuroreportjournal_title
Neuroreportauthors
Fuse Y,Doi K,Hasegawa T,Sugii A,Hibino H,Kubo Tdoi
10.1097/00001756-199906230-00010subject
Has Abstractpub_date
1999-06-23 00:00:00pages
1853-7issue
9eissn
0959-4965issn
1473-558Xjournal_volume
10pub_type
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