dc.creatorUEHARA, Daniela Tiaki
dc.creatorRINCON, Daniel
dc.creatorABREU-SILVA, Ronaldo Serafim
dc.creatorAURICCHIO, Maria Teresa Balester de Mello
dc.creatorTABITH JR., Alfredo
dc.creatorKOK, Fernando
dc.creatorMINGRONI-NETTO, Regina Celia
dc.date.accessioned2012-10-20T03:03:48Z
dc.date.accessioned2018-07-04T15:32:11Z
dc.date.available2012-10-20T03:03:48Z
dc.date.available2018-07-04T15:32:11Z
dc.date.created2012-10-20T03:03:48Z
dc.date.issued2010
dc.identifierGENETIC TESTING AND MOLECULAR BIOMARKERS, v.14, n.5, p.611-616, 2010
dc.identifier1945-0265
dc.identifierhttp://producao.usp.br/handle/BDPI/27495
dc.identifier10.1089/gtmb.2010.0011
dc.identifierhttp://dx.doi.org/10.1089/gtmb.2010.0011
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1624142
dc.description.abstractSamples 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.
dc.languageeng
dc.publisherMARY ANN LIEBERT INC
dc.relationGenetic Testing and Molecular Biomarkers
dc.rightsCopyright MARY ANN LIEBERT INC
dc.rightsrestrictedAccess
dc.titleRole of the Mitochondrial Mutations, m. 827A > G and the Novel m. 7462C > T, in the Origin of Hearing Loss
dc.typeArtículos de revistas


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