title: GJB2 gene mutations in childhood deafness.
abstract: The frequency of childhood deafness is estimated at 1:1,000 and at least half of these cases are genetic. Recently, mutations in the GJB2 gene have been found in a great number of familial and sporadic cases of congenital deafness in Caucasians. The most common mutation (70%) is the frameshift mutation of a single guanine in position 35 (35delG). More than 20 mutations in the GJB2 gene are associated with DFNB1, a prevalent type of autosomal recessive non-syndromic neurosensory deafness. Last year we initiated a systematic screening programme to evaluate the causes of deafness in the population of prelingually deaf children who are referred to our cochlear implant programme. All of the deaf children and their parents undergo a comprehensive medical review, directed to identify causes of acquired deafness and manifestations of syndromic hearing impairment. DNA is extracted from the blood of all of the children. The technique AS-PCR (allele-specific polymerase chain reaction) is used for the identification of the mutation 35delG. Screening for other GJB2 gene mutations is carried out by single-strand conformation polymorphisms (SSCP). Our results on the identification of DFNB1 will be presented, as well as a discussion on the implications of an aetiological diagnosis in cochlear implantation.
authors.affiliation: Department of Otorhinolaryngology, Hospital San Juan de Dios, Caracas, Venezuela.
authors.forename: S
authors.initials: S
authors.lastname: Angeli
authors.forename: R
authors.initials: R
authors.lastname: Utrera
authors.forename: S
authors.initials: S
authors.lastname: Dib
authors.forename: E
authors.initials: E
authors.lastname: Chiossone
authors.forename: C
authors.initials: C
authors.lastname: Naranjo
authors.forename: O
authors.initials: O
authors.lastname: Henríquez
authors.forename: M
authors.initials: M
authors.lastname: Porta
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D003054:Cochlear Implants; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000534:rehabilitation; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009218:Myosins / Q000235:genetics
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D009218:Myosins