Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile

Hearing loss is the most common inherited sensorial deficiency in humans; about 1 in 1000 children suffer from severe or profound hearing loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many populations; the c.35delG mu...

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Autores principales:	Cifuentes,Lucía, Arancibia,Margarita, Torrente,Mariela, Acuña,Mónica, Farfán,Corina, Ríos,Carolina
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2013
Materias:	Genetic deafness Hereditary hearing loss 35delG mutation frequency GJB2 mutations Chilean population
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602013000300003
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spelling	oai:scielo:S0716-976020130003000032014-01-20Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from ChileCifuentes,LucíaArancibia,MargaritaTorrente,MarielaAcuña,MónicaFarfán,CorinaRíos,Carolina Genetic deafness Hereditary hearing loss 35delG mutation frequency GJB2 mutations Chilean population Hearing loss is the most common inherited sensorial deficiency in humans; about 1 in 1000 children suffer from severe or profound hearing loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many populations; the c.35delG mutation is the most common in Caucasian populations. The frequency of the c.35delG mutation was estimated in two samples of deaf patients from Santiago, Chile. Unrelated non-syndromic sensorioneural deaf patients were examined: Group 1 consisted of 47 unrelated individuals with neurosensory deafness referred to the Chilean Cochlear Implant Program; Group 2 included 66 school children with prelingual deafness attending special education institutions for deaf people. Individuals with profound to moderate isolated neurosensory hearing loss with unknown etiology were included. The presence of the c.35delG mutation was evaluated by the allele-specific polymerase chain reaction method (PCR), and in some cases it was confirmed by direct DNA sequencing of the coding region of the GJB2 gene. Deaf relatives were present in 20.3% of the cases. We found 19.5% (22/113) patients with the c.35delG mutation, 6 of them homozygous; these rates are similar to frequencies found in other Latin American countries.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.46 n.3 20132013-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602013000300003en10.4067/S0716-97602013000300003
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	Genetic deafness Hereditary hearing loss 35delG mutation frequency GJB2 mutations Chilean population
spellingShingle	Genetic deafness Hereditary hearing loss 35delG mutation frequency GJB2 mutations Chilean population Cifuentes,Lucía Arancibia,Margarita Torrente,Mariela Acuña,Mónica Farfán,Corina Ríos,Carolina Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
description	Hearing loss is the most common inherited sensorial deficiency in humans; about 1 in 1000 children suffer from severe or profound hearing loss at birth. Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many populations; the c.35delG mutation is the most common in Caucasian populations. The frequency of the c.35delG mutation was estimated in two samples of deaf patients from Santiago, Chile. Unrelated non-syndromic sensorioneural deaf patients were examined: Group 1 consisted of 47 unrelated individuals with neurosensory deafness referred to the Chilean Cochlear Implant Program; Group 2 included 66 school children with prelingual deafness attending special education institutions for deaf people. Individuals with profound to moderate isolated neurosensory hearing loss with unknown etiology were included. The presence of the c.35delG mutation was evaluated by the allele-specific polymerase chain reaction method (PCR), and in some cases it was confirmed by direct DNA sequencing of the coding region of the GJB2 gene. Deaf relatives were present in 20.3% of the cases. We found 19.5% (22/113) patients with the c.35delG mutation, 6 of them homozygous; these rates are similar to frequencies found in other Latin American countries.
author	Cifuentes,Lucía Arancibia,Margarita Torrente,Mariela Acuña,Mónica Farfán,Corina Ríos,Carolina
author_facet	Cifuentes,Lucía Arancibia,Margarita Torrente,Mariela Acuña,Mónica Farfán,Corina Ríos,Carolina
author_sort	Cifuentes,Lucía
title	Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
title_short	Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
title_full	Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
title_fullStr	Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
title_full_unstemmed	Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
title_sort	prevalence of the 35delg mutation in the gjb2 gene in two samples of non-syndromic deaf subjects from chile
publisher	Sociedad de Biología de Chile
publishDate	2013
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602013000300003
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Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile

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