Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/199519
Type: Artigo de periódico
Title: Searching For Digenic Inheritance In Deaf Brazilian Individuals Using The Multiplex Ligation-dependent Probe Amplification Technique.
Author: da Silva-Costa, Sueli M
Martins, Fábio Tadeu Arrojo
Pereira, Tânia
Pomilio, Mariza C A
Marques-de-Faria, Antonia Paula
Sartorato, Edi Lúcia
Abstract: Mutations in the genes coding for connexin 26 (Cx26), connexin 30 (Cx30), and connexin 31 (Cx31) are the main cause of autosomal recessive nonsyndromic sensorineural hearing loss (AR-NSNHL). The 35delG mutation is the most frequent in the majority of Caucasian populations and may account for up to 70% of all GJB2 mutations. As a large number of affected individuals (10%-40%) with GJB2 mutations carry only one mutant allele, it has been postulated that the presence of additional mutations in the GJB6 gene (Cx30) explains the deafness condition found in these patients. In the present study, we screened the c.35delG mutation in ~600 unrelated Brazilian patients, with moderate to profound AR-NSNHL. Other point mutations in the coding region of the GJB2 gene were screened by sequencing analysis as well as the IVS 1+1 G>A splice site mutation in the same gene. Digenic mutations including large deletions and duplications were investigated in the Cx26, 30, and 31 genes in monoallelic individuals for mutations in the GJB2 gene. Large deletions and duplications were assessed by multiplex ligation-dependent probe amplification. We found 46 patients with mutations in only one GJB2 allele. Different pathogenic mutations associated with c.35delG were found in 13 patients. Two patients were identified with digenic heterozygous mutations. Our findings contributed to more accurate diagnosis and more appropriate genetic counseling in 28% of patients studied (13/46).
Subject: Brazil
Connexins
Dna Mutational Analysis
European Continental Ancestry Group
Female
Gene Duplication
Genetic Counseling
Genetic Predisposition To Disease
Hearing Loss, Sensorineural
Humans
Male
Mass Screening
Molecular Probes
Point Mutation
Polymerase Chain Reaction
Sequence Analysis, Dna
Sequence Deletion
Rights: fechado
Identifier DOI: 10.1089/gtmb.2011.0034
Address: http://www.ncbi.nlm.nih.gov/pubmed/21728791
Date Issue: 2011
Appears in Collections:Unicamp - Artigos e Outros Documentos

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