title: GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.
abstract: Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearing loss. Thirty-one different mutations were identified in GJB2 and GJB6 in 86 of the 252 (34%) patients. We describe for the first time two new mutations in GJB2: the missense mutation c.29 T>C (p.Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequencies that are comparable to those of the Mediterranean area. Most important, it adds two novel GJB2 mutations to be taken into consideration in the genetic diagnosis of non-syndromic sensorineural hearing loss.
authors.affiliation: Instituto de Investigaciones en Ingeniería Genética y Biología Molecular, Consejo Nacional de Investigaciones Científicas y Técnicas, Universidad de Buenos Aires, Buenos Aires, Argentina. dalamon@dna.uba.ar
authors.forename: Viviana
authors.initials: V
authors.lastname: Dalamón
authors.forename: Vanesa
authors.initials: V
authors.lastname: Lotersztein
authors.forename: Agustina
authors.initials: A
authors.lastname: Béhèran
authors.forename: Marcela
authors.initials: M
authors.lastname: Lipovsek
authors.forename: Fernando
authors.initials: F
authors.lastname: Diamante
authors.forename: Norma
authors.initials: N
authors.lastname: Pallares
authors.forename: Liliana
authors.initials: L
authors.lastname: Francipane
authors.forename: Gustavo
authors.initials: G
authors.lastname: Frechtel
authors.forename: Bibiana
authors.initials: B
authors.lastname: Paoli
authors.forename: Enrique
authors.initials: E
authors.lastname: Mansilla
authors.forename: Vicente
authors.initials: V
authors.lastname: Diamante
authors.forename: Ana Belén
authors.initials: AB
authors.lastname: Elgoyhen
mesh_terms: D019943:Amino Acid Substitution; D001118:Argentina; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D017931:DNA Primers; D016368:Frameshift Mutation; D005808:Genes, Recessive; D014644:Genetic Variation; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion
chemical_list: D017630:Connexins; D017931:DNA Primers; C000607042:GJB2 protein, human; D000072259:Connexin 26