Artículo
GJB2 and GJB6 genes: Molecular study and identification of novel GJB2 mutations in the hearing-impaired argentinean population
Dalamon, Viviana Karina
; Lotersztein, Vanesa; Béhèran, Agustina; Lipovsek, Maria Marcela
; Diamante, Fernando; Pallares, Norma; Francipane, Liliana; Frechtel, Gustavo Daniel
; Paoli, Bibiana; Mansilla, Enrique; Diamante, Vicente; Elgoyhen, Ana Belen
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Fecha de publicación:
03/2010
Editorial:
Karger
Revista:
Audiology And Neuro-otology
ISSN:
1420-3030
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
Palabras clave:
Connexin 26
,
Connexin 30
,
Deafness
,
Gjb2
,
Gjb6
,
Mutation, Novel
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Articulos(INGEBI)
Articulos de INST.DE INVEST.EN ING.GENETICA Y BIOL.MOLECULAR "DR. HECTOR N TORRES"
Articulos de INST.DE INVEST.EN ING.GENETICA Y BIOL.MOLECULAR "DR. HECTOR N TORRES"
Citación
Dalamon, Viviana Karina; Lotersztein, Vanesa; Béhèran, Agustina; Lipovsek, Maria Marcela; Diamante, Fernando; et al.; GJB2 and GJB6 genes: Molecular study and identification of novel GJB2 mutations in the hearing-impaired argentinean population; Karger; Audiology And Neuro-otology; 15; 3; 3-2010; 194-202
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