| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family
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| Autores: |
Rabionet,Raquel
Morales-Peralta,Estela
López-Bigas,Núria
Arbonés,Maria Lourdes
Estivill,Xavier
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| Data: |
2006-01-01
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| Ano: |
2006
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| Palavras-chave: |
Connexin 26
GJB2
DFNA3
Hearing impairment
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| Resumo: |
Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% 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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300006
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572006000300006
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.29 n.3 2006
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| Direitos: |
info:eu-repo/semantics/openAccess
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