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dc.contributor.CRUESPUniversidade Estadual de Campinaspt
dc.typeArtigo de periódicopt
dc.titleSearching for Digenic Inheritance in Deaf Brazilian Individuals Using the Multiplex Ligation-Dependent Probe Amplification Techniquept
dc.contributor.authorda Silva-Costa, SMpt
dc.contributor.authorMartins, FTApt
dc.contributor.authorPereira, Tpt
dc.contributor.authorPomilio, MCApt
dc.contributor.authorMarques-de-Faria, APpt
dc.contributor.authorSartorato, ELpt
unicamp.authorda Silva-Costa, Sueli M. Arrojo Martins, Fabio Tadeu Sartorato, Edi Lucia Univ Estadual Campinas, CBMEG, UNICAMP, BR-13083970 Campinas, SP, Brazilpt
unicamp.authorPereira, Tania Pomilio, Mariza C. A. ATEAL, Jundiai, Brazilpt
unicamp.authorMarques-de-Faria, Antonia Paula Univ Estadual Campinas, FCM, Dept Med Genet, Campinas, SP, Brazilpt
dc.subject.wosHearing Impairmentpt
dc.subject.wosDel(gjb6-d13s1830) Mutationpt
dc.subject.wosCongenital Deafnesspt
dc.subject.wosGjb2 Mutationspt
dc.description.abstractMutations 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 similar to 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).
dc.relation.ispartofGenetic Testing And Molecular Biomarkers
dc.relation.ispartofabbreviationGenet. Test. Mol.
dc.publisher.cityNew Rochellept
dc.publisherMary Ann Liebert Incpt
dc.identifier.citationGenetic Testing And Molecular Biomarkers. Mary Ann Liebert Inc, v. 15, n. 12, n. 849, n. 853,
dc.sourceWeb of Sciencept
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)pt
dc.description.sponsorship1Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)pt
dc.description.provenanceMade available in DSpace on 2014-07-30T18:31:28Z (GMT). No. of bitstreams: 0 Previous issue date: 2011en
dc.description.provenanceMade available in DSpace on 2015-11-26T17:49:24Z (GMT). No. of bitstreams: 2 WOS000298345100003.pdf: 125954 bytes, checksum: 8dca5b47ff583cf1290ac94f313a9278 (MD5) WOS000298345100003.pdf.txt: 26226 bytes, checksum: 1e06c0904a1017f09ad5ac3050585061 (MD5) Previous issue date: 2011en
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