title: GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
abstract: OBJECTIVE
  Mutations in the DFNB1 locus are the most common cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) worldwide. The aim of this study was to identify the most frequent mutations in patients with ARNSHL who reside in Northeastern Mexico.
  
  
  METHODS
  We determined the nucleotide sequence the coding region of GJB2 of 78 patients with ARNSHL. Polymerase chain reaction assays were used to detect the GJB2 IVS1+1G>A mutation and deletions within GJB6.
  
  
  RESULTS
  GJB2 mutations were detected in 9.6% of the alleles, and c.35delG was the most frequent. Six other less-frequent mutations were detected, including an extremely rare variant (c.645_648delTAGA), a novel mutation (c.35G>A), and one of possible Mexican origin (c.34G>T). GJB6 deletions and GJB2 IVS1+1G>A were not detected.
  
  
  CONCLUSIONS
  These data suggest that mutations in the DFNB1 locus are a rare cause of ARNSHL among the population of Northeastern Mexico. This confirms the genetic heterogeneity of this condition and indicates that further research is required to determine the other mechanisms of pathogenesis of ARNSHL in Mexicans.
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL), Av. Gonzalitos s/n cruce con Av. Madero, Col. Mitras Centro CP 64460, Monterrey, N.L., México.
authors.forename: Aideé Alejandra
authors.initials: AA
authors.lastname: Hernández-Juárez
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL), Av. Gonzalitos s/n cruce con Av. Madero, Col. Mitras Centro CP 64460, Monterrey, N.L., México.
authors.forename: José de Jesús
authors.initials: Jde J
authors.lastname: Lugo-Trampe
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL), Av. Gonzalitos s/n cruce con Av. Madero, Col. Mitras Centro CP 64460, Monterrey, N.L., México.
authors.forename: Luis Daniel
authors.initials: LD
authors.lastname: Campos-Acevedo
authors.affiliation: Centro Mesoamericano de Estudios en Salud Pública y Desastres, Universidad Autónoma de Chiapas (UNACH), Carretera Antiguo Aeropuerto; Pista Principal cruce con Pista Secundaria S/N, Col. Solidaridad 2000, CP 30798, Tapachula, Chis, México.
authors.forename: Angel
authors.initials: A
authors.lastname: Lugo-Trampe
authors.affiliation: Departamento de Otorrinolaringología, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL), Av. Gonzalitos s/n cruce con Av. Madero, Col. Mitras Centro CP 64460, Monterrey, N.L., México.
authors.forename: José Luis
authors.initials: JL
authors.lastname: Treviño-González
authors.affiliation: Servicio de Audiología Pediátrica, Hospital Materno-Infantil, Aldama 460, Col. San Rafael, CP. 67190, Guadalupe, N.L., México.
authors.forename: Israel
authors.initials: I
authors.lastname: de-la-Cruz-Ávila
authors.affiliation: Departamento de Genética, Facultad de Medicina y Hospital Universitario "José E. González", Universidad Autónoma de Nuevo León (UANL), Av. Gonzalitos s/n cruce con Av. Madero, Col. Mitras Centro CP 64460, Monterrey, N.L., México. Electronic address: laelmar@yahoo.com.mx.
authors.forename: Laura Elia
authors.initials: LE
authors.lastname: Martínez-de-Villarreal
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D008297:Male; D008800:Mexico; D009154:Mutation; D060888:Real-Time Polymerase Chain Reaction
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26
keywords: DFNB1; GJB2; GJB6; autosomal-recessive; deafness; nonsyndromic