Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.
Mutations in the GJB2 gene are the most common cause of sensorineural non-syndromic deafness in different populations. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in many countries. The aim of this study was to determine the prevalence of GJB2 mutations and the del(GJB6-D13S1830) mutation in non-syndromic deaf Brazilians. The 33 unrelated probands were examined by clinical evaluation to exclude syndromic forms of deafness. Mutation analysis in the GJB2 gene and the testing for the del(GJB6-D13S1830) were performed in both the patients and their family members. The 35delG mutation was found in nine of the probands or in 14 of the mutated alleles. The V37I mutation and the del(GJB6-D13S1830) mutation were also found in two patients, both are compound heterozygote with 35delG mutation. These findings strengthen the importance of genetic diagnosis, providing early treatment, and genetic counseling of deaf patients.
Belintani Piatto
Vânia
V
Medical School of São José do Rio Preto, Rua Frei Baltazar, No. 415, Boa Vista, São José do Rio Preto, São Paulo 15025-390, Brazil. vabp@bol.com.br
Maria Goloni Bertollo
Eny
E
Lúcia Sartorato
Edi
E
Victor Maniglia
José
J
D001938:Brazil; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D006147:Guanine; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007532:Isoleucine; D008297:Male; D018598:Minisatellite Repeats; D009154:Mutation; D014633:Valine
D017630:Connexins; C000607042:GJB2 protein, human; D007532:Isoleucine; D000072259:Connexin 26; D006147:Guanine; D014633:Valine