A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family
Genet. mol. biol
; 29(3): 443-445, 2006. ilus
Article
in English
| LILACS
| ID: lil-450277
Responsible library:
BR26.1
ABSTRACT
Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50 percent of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness have been described. Mutations in the GJB2 gene are the cause of an important number of cases of non-syndromic recessive deafness but are not as common in non-syndromic dominant deafness cases. We describe here a new dominant mutation (G21R) in the GJB2 gene which causes deafness and has been identified in a three generation Cuban family with dominant non-syndromic congenital sensorineural profound deafness.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Connexins
/
Genes, Dominant
/
Hearing Loss, Sensorineural
Type of study:
Etiology study
Limits:
Humans
Country/Region as subject:
Caribbean
/
Cuba
Language:
English
Journal:
Genet. mol. biol
Journal subject:
Genetics
Year:
2006
Document type:
Article
Affiliation country:
Cuba
/
Spain
Institution/Affiliation country:
Center for Genomic Regulation, Genes and Disease Program/ES
/
National Center of Medical Genetics/CU