A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

Raquel Rabionet, Estela Morales-Peralta, Núria Lópes-Bigas, Maria Lourdes Arbonés, Xavier P. Estivill

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)443-445
Number of pages3
JournalGenetics and Molecular Biology
Volume29
Issue number3
Publication statusPublished - 2006
Externally publishedYes

Fingerprint

Deafness
Mutation
Genes
Developed Countries

Keywords

  • Connexin 26
  • DFNA3
  • GJB2
  • Hearing impairment

ASJC Scopus subject areas

  • Genetics

Cite this

A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family. / Rabionet, Raquel; Morales-Peralta, Estela; Lópes-Bigas, Núria; Arbonés, Maria Lourdes; Estivill, Xavier P.

In: Genetics and Molecular Biology, Vol. 29, No. 3, 2006, p. 443-445.

Research output: Contribution to journalArticle

Rabionet, Raquel ; Morales-Peralta, Estela ; Lópes-Bigas, Núria ; Arbonés, Maria Lourdes ; Estivill, Xavier P. / A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family. In: Genetics and Molecular Biology. 2006 ; Vol. 29, No. 3. pp. 443-445.
@article{c69be9423dea40229efa1186d9c3a909,
title = "A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family",
abstract = "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.",
keywords = "Connexin 26, DFNA3, GJB2, Hearing impairment",
author = "Raquel Rabionet and Estela Morales-Peralta and N{\'u}ria L{\'o}pes-Bigas and Arbon{\'e}s, {Maria Lourdes} and Estivill, {Xavier P.}",
year = "2006",
language = "English",
volume = "29",
pages = "443--445",
journal = "Genetics and Molecular Biology",
issn = "1415-4757",
publisher = "Brazilian Society of Genetics",
number = "3",

}

TY - JOUR

T1 - A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

AU - Rabionet, Raquel

AU - Morales-Peralta, Estela

AU - Lópes-Bigas, Núria

AU - Arbonés, Maria Lourdes

AU - Estivill, Xavier P.

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

KW - Connexin 26

KW - DFNA3

KW - GJB2

KW - Hearing impairment

UR - http://www.scopus.com/inward/record.url?scp=33748658023&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33748658023&partnerID=8YFLogxK

M3 - Article

VL - 29

SP - 443

EP - 445

JO - Genetics and Molecular Biology

JF - Genetics and Molecular Biology

SN - 1415-4757

IS - 3

ER -