title: Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile.
abstract: 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.
authors.affiliation: Laboratorio de Epidemiología Genética, Programa de Genética Humana, ICBM, Facultad de Medicina, Universidad de Chile, Chile, lcifuent@med.uchile.cl.
authors.forename: Lucía
authors.initials: L
authors.lastname: Cifuentes
authors.affiliation: Servicio de Otorrinolaringología, Hospital San Juan de Dios, Santiago, Chile.
authors.forename: Margarita
authors.initials: M
authors.lastname: Arancibia
authors.affiliation: Departamento de Otorrinolaringología, Universidad de Chile, Chile.
authors.forename: Mariela
authors.initials: M
authors.lastname: Torrente
authors.affiliation: Laboratorio de Epidemiología Genética, Programa de Genética Humana, ICBM, Facultad de Medicina, Universidad de Chile, Chile, lcifuent@med.uchile.cl.
authors.forename: Mónica
authors.initials: M
authors.lastname: Acuña
authors.affiliation: Escuela de Tecnología Médica, Facultad de Medicina, Universidad de Chile, Chile.
authors.forename: Corina
authors.initials: C
authors.lastname: Farfán
authors.affiliation: Laboratorio de Epidemiología Genética, Programa de Genética Humana, ICBM, Facultad de Medicina, Universidad de Chile, Chile, lcifuent@med.uchile.cl.
authors.forename: Carolina
authors.initials: C
authors.lastname: Ríos
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002677:Chile; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis; D003638:Deafness; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26