title: Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.
abstract: Severe to profound hearing impairment affects 1 of every 1000 newborn children each year. Inheritance accounts for 60% of these cases, of which 70% are nonsyndromic. The most common cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) is mutation in GJB2, a gene on chromosome 13, which encodes a gap junction protein named Connexin 26. Mutations in GJB2 are responsible for 40% of genetic childhood deafness. The most common mutation, 35delG, predominates in many ethnic groups. Some families with linkage to the DFNB1 locus have none or only one mutated allele in GJB2, however, some subjects can exhibit a large deletion in another connexin gene, GJB6, resulting in a monogenic or digenic pattern of inheritance in this complex DFNB1 locus that contains both genes (GJB2 and GJB6). The aim of the study was to determine (1) the frequency for the 35delG (27.5%), del(GJB6-D13S1830) (2.5%) and del(GJB6-D13S1854) (0.0%) mutations in a cohort of 40 Venezuelan patients with ARNSHL and (2) the carrier frequency 35delG (4%), del(GJB6-D13S1830) (0%) and del(GJB6-D13S1854) (0%) in the Venezuelan population with no familial history of hearing impairment. One patient (2.5%) was detected as double heterozygote for the deletion del(GJB6-D13S1830) and 35delG mutation. This result has direct clinical implications because we include the molecular detection of the deletion del(GJB6-D13S1830) during the evaluation of the diagnosis of deafness in the Venezuelan population.
authors.affiliation: Departamento de Biología Celular, Universidad Simón Bolívar, Caracas, Venezuela 1081-A. rutrera@usb.ve <rutrera@usb.ve>
authors.forename: René
authors.initials: R
authors.lastname: Utrera
authors.forename: Vanessa
authors.initials: V
authors.lastname: Ridaura
authors.forename: Yuryanni
authors.initials: Y
authors.lastname: Rodríguez
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Rojas
authors.forename: Leomig
authors.initials: L
authors.lastname: Mago
authors.forename: Simón
authors.initials: S
authors.lastname: Angeli
authors.forename: Oswaldo
authors.initials: O
authors.lastname: Henríquez
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D005820:Genetic Testing; D034381:Hearing Loss / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion; D014687:Venezuela
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26