Role of the Mitochondrial Mutations, m. 827A > G and the Novel m. 7462C > T, in the Origin of Hearing Loss
Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
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Data(s) |
20/10/2012
20/10/2012
2010
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Resumo |
Samples from 30 deaf probands exhibiting features suggestive of syndromic mitochondrial deafness or from families with maternal transmission of deafness were selected for investigation of mutations in the mitochondrial genes MT-RNR1 and MT-TS1. Patients with mutation m. 1555A>G had been previously excluded from this sample. In the MT-RNR1 gene, five probands presented the m. 827A>G sequence variant, of uncertain pathogenicity. This change was also detected in 66 subjects of an unaffected control sample of 306 Brazilian individuals from various ethnic backgrounds. Given its high frequency, we consider it unlikely to have a pathogenic role on hereditary deafness. As to the MT-TS1 gene, one proband presented the previously known pathogenic m. 7472insC mutation and three probands presented a novel variant, m. 7462C>T, which was absent from the same control sample of 306 individuals. Because of its absence in control samples and association with a family history of hearing impairment, we suggest it might be a novel pathogenic mutation. CEPID-FAPESP Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) CNPq Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) |
Identificador |
GENETIC TESTING AND MOLECULAR BIOMARKERS, v.14, n.5, p.611-616, 2010 1945-0265 http://producao.usp.br/handle/BDPI/27495 10.1089/gtmb.2010.0011 |
Idioma(s) |
eng |
Publicador |
MARY ANN LIEBERT INC |
Relação |
Genetic Testing and Molecular Biomarkers |
Direitos |
restrictedAccess Copyright MARY ANN LIEBERT INC |
Palavras-Chave | #12S RIBOSOMAL-RNA #NON-SYNDROMIC DEAFNESS #SENSORINEURAL DEAFNESS #POINT MUTATION #AMINOGLYCOSIDE OTOTOXICITY #TRNA(SER(UCN)) GENE #PEDIATRIC SUBJECTS #A1555G MUTATION #MTDNA VARIATION #A827G MUTATION #Biochemistry & Molecular Biology #Genetics & Heredity |
Tipo |
article original article publishedVersion |