High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

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dc.contributor.authorSplendore, A.
dc.contributor.authorSilva, E. O.
dc.contributor.authorAlonso, L. G.
dc.contributor.authorRichieri-Costa, A.
dc.contributor.authorAlonso, N.
dc.contributor.authorRosa, A.
dc.contributor.authorCarakushanky, G.
dc.contributor.authorCavalcanti, D. P.
dc.contributor.authorBrunoni, D.
dc.contributor.authorPassos-Bueno, M. R.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionInst Materno Infantil Pernambuco
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionHosp Reabil Lesoes Labio Palatinas
dc.contributor.institutionInst Invest Med Mercedes & Martin Ferreyra
dc.contributor.institutionUniversidade Federal do Rio de Janeiro (UFRJ)
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.date.accessioned2016-01-24T12:30:58Z
dc.date.available2016-01-24T12:30:58Z
dc.date.issued2000-01-01
dc.description.abstractTwenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing. Pathogenic mutations were detected in 26 patients, yielding the highest detection rate reported so far for this disease (93%) and bringing the number of known disease-causing mutations from 35 to 51. This is the first report to describe clustering of pathogenic mutations. Thirteen novel polymorphic alterations were characterized, confirming previous reports that TCOF1 has an unusually high rate of single-nucleotide polymorphisms (SNPs) within its coding region. We suggest a possible different mechanism leading to TCS or genetic heterogeneity for this condition, as we identified two families with no apparent pathogenic mutation in the gene. Furthermore, our data confirm the absence of genotype-phenotype correlation and reinforce that the apparent anticipation often observed in TCS families is due to ascertainment bias. Hum Mutat 16:315-322, 2000. (C) 2000 Wiley-Liss, Inc.en
dc.description.affiliationUniv São Paulo, Inst Biociencias, Ctr Estudos Genoma Humano, Dept Biol, BR-05508900 São Paulo, Brazil
dc.description.affiliationInst Materno Infantil Pernambuco, Serv Genet Med, Recife, PE, Brazil
dc.description.affiliationEscola Paulista Med, Disciplina Genet, BR-04023 São Paulo, Brazil
dc.description.affiliationHosp Reabil Lesoes Labio Palatinas, Bauru, Brazil
dc.description.affiliationHC FMUSP, Dept Cirurg Plast, São Paulo, Brazil
dc.description.affiliationInst Invest Med Mercedes & Martin Ferreyra, Neurogenet Lab, Cordoba, Argentina
dc.description.affiliationUniv Fed Rio de Janeiro, Inst Pediat & Puericultuta Martagao Gesteira, Rio de Janeiro, Brazil
dc.description.affiliationUNICAMP, Fac Ciencias Med, Dept Med Genet, Campinas, SP, Brazil
dc.description.affiliationUnifespEscola Paulista Med, Disciplina Genet, BR-04023 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent315-322
dc.identifierhttp://dx.doi.org/10.1002/1098-1004(200010)16:4<315
dc.identifier.citationHuman Mutation. New York: Wiley-liss, v. 16, n. 4, p. 315-322, 2000.
dc.identifier.doi10.1002/1098-1004(200010)16:4<315
dc.identifier.issn1059-7794
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/26212
dc.identifier.wosWOS:000089746800004
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofHuman Mutation
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectTreacher Collins syndromeen
dc.subjectTCOF1en
dc.subjecttreacleen
dc.subjectclinical variabilityen
dc.subjectmutation detection rateen
dc.subjectanticipationen
dc.subjectSNPen
dc.titleHigh mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changesen
dc.typeinfo:eu-repo/semantics/article
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