GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.
Copyright policy )GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.
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.
Fil: Elgoyhen, Ana Belen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Farmacología; Argentina
Fil: Frechtel, Gustavo Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Lipovsek, Maria Marcela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina
Fil: Lotersztein, Vanesa. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Francipane, Liliana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Mansilla, Enrique. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Paoli, Bibiana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina
Fil: Diamante, Fernando. Centro de Implantes Cocleares "Prof. Dr. Vicente Diamante"; Argentina
- University of Buenos Aires Argentina
- National Scientific and Technical Research Council Argentina
Polymorphism, Genetic, Mutation, Novel, Argentina, Genetic Variation, Genes, Recessive, Deafness, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Connexins, Introns, Gjb2, Connexin 26, Gjb6, Amino Acid Substitution, Mutation, Connexin 30, https://purl.org/becyt/ford/3.2, Humans, https://purl.org/becyt/ford/3, Frameshift Mutation, Hearing Loss, DNA Primers, Sequence Deletion
Polymorphism, Genetic, Mutation, Novel, Argentina, Genetic Variation, Genes, Recessive, Deafness, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Connexins, Introns, Gjb2, Connexin 26, Gjb6, Amino Acid Substitution, Mutation, Connexin 30, https://purl.org/becyt/ford/3.2, Humans, https://purl.org/becyt/ford/3, Frameshift Mutation, Hearing Loss, DNA Primers, Sequence Deletion
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