Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.
Neuroreport
; 10(9): 1853-7, 1999 Jun 23.
Article
en En
| MEDLINE
| ID: mdl-10501520
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.
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Banco de datos:
MEDLINE
Asunto principal:
Mutación del Sistema de Lectura
/
Conexinas
/
Sustitución de Aminoácidos
/
Sordera
Límite:
Female
/
Humans
/
Male
País como asunto:
Asia
Idioma:
En
Año:
1999
Tipo del documento:
Article