title: [Genetic study of hearing loss in families from Argentina].
abstract: Recent advances in molecular genetics as well as improved strategies for the prevention and control of non-syndromic hearing loss (NSHL) have contributed to the rising importance of their inherited causes. In this study we report 32 families from Argentine with one (sporadic) or more (familial) individuals affected. All the families were initially screened for mutations in three autosomal nuclear genes and one mutation in mitochondrial DNA. These genes have been found in a great number of familial or sporadic cases of congenital deafness in Caucasians. The mutant allele 35 del G of connexin 26 (GJB2, locus DFNB1 on 13q12) was present in three families. We have investigated the gene encoding otoferlin (OTOF, locus DFNB9 on 2p22-p23) and we found the Q829X mutation in heterocigosity in two families. We have also identified in heterocigosity the 342-kb deletion of connexin 30 (GJB6, locus DFNB1 on 13q12) in one family. On the other hand, we have not found any patient with mitochondrial mutation. Since the screening for other mutations is very expensive, our main goal is to investigate the most frequent mutations in each separate gene in the argentine population and to develop simple and specific tests for each frequent mutations.
authors.affiliation: Cátedra de Bioquímica y Biología Molecular, Facultad de Ciencias Médicas, UNC, Córdoba.
authors.forename: Raúl A
authors.initials: RA
authors.lastname: Reynoso
authors.forename: Silvia
authors.initials: S
authors.lastname: Hendl
authors.forename: Marìa E
authors.initials: ME
authors.lastname: Barteik
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Curet
authors.forename: Luis
authors.initials: L
authors.lastname: Nicemboin
authors.forename: José
authors.initials: J
authors.lastname: Moreno Barral
authors.forename: Montserrat
authors.initials: M
authors.lastname: Rodríguez Ballesteros
authors.forename: Ignacio
authors.initials: I
authors.lastname: Del Castillo
authors.forename: Felipe
authors.initials: F
authors.lastname: Moreno
mesh_terms: D000328:Adult; D001118:Argentina; D002648:Child; D000072259:Connexin 26; D017630:Connexins; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005817:Genetic Counseling; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
vernacular_title: Estudio genético de hipoacusia en familias de Argentina.