A genetic linkage study in Brazil identifies a new locus for persistent developmental stuttering on chromosome 10

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dc.contributor.authorDomingues, C. E. F. [UNESP]
dc.contributor.authorOlivera, C. M. C. [UNESP]
dc.contributor.authorOliveira, B. V. [UNESP]
dc.contributor.authorJuste, F. S.
dc.contributor.authorAndrade, C. R. F.
dc.contributor.authorGiacheti, Célia Maria [UNESP]
dc.contributor.authorMoretti-Ferreira, D. [UNESP]
dc.contributor.authorDrayna, D.
dc.contributor.institutionNIDCD
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.date.accessioned2014-12-03T13:10:53Z
dc.date.available2014-12-03T13:10:53Z
dc.date.issued2014-01-01
dc.description.abstractAlthough twin, adoption, and family studies demonstrate that genetic factors are involved in the origins of stuttering, the mode of transmission of the disorder in families is not well defined and stuttering is considered a genetically complex trait. We performed a genome-wide linkage scan in a group of 43 Brazilian families, each containing multiple cases of persistent developmental stuttering. Linkage analysis under a dominant model of inheritance generated significant evidence of linkage in two Brazilian families, with a combined maximum single-point LOD score of 4.02 and a multipoint LOD score of 4.28 on chromosome 10q21. This demonstrated the presence of a novel variant gene at this locus that predisposes individuals to stuttering, which provides an opportunity to identify novel genetic mechanisms that underlie this disorder.en
dc.description.affiliationNIDCD, NIH, Rockville, MD 20850 USA
dc.description.affiliationUniv Estadual Paulista, Inst Biociencias Botucatu, Dept Genet, Botucatu, SP, Brazil
dc.description.affiliationUniv Estadual Paulista, Dept Fonoaudiol, Ctr Estudos Educ & Saude, Marilia, SP, Brazil
dc.description.affiliationUniv Sao Paulo, Dept Fonoaudiol Fisioterapia & Terapia Ocupac, Fac Med, Sao Paulo, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Inst Biociencias Botucatu, Dept Genet, Botucatu, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Dept Fonoaudiol, Ctr Estudos Educ & Saude, Marilia, SP, Brazil
dc.description.sponsorshipNational Institute on Deafness and Other Communication Disorders/National Institutes of Health Intramural
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.description.sponsorshipIdNational Institute on Deafness and Other Communication Disorders/National Institutes of Health IntramuralZ01-000046-12
dc.format.extent2094-2101
dc.identifierhttp://dx.doi.org/10.4238/2014.March.24.13
dc.identifier.citationGenetics And Molecular Research. Ribeirao Preto: Funpec-editora, v. 13, n. 1, p. 2094-2101, 2014.
dc.identifier.doi10.4238/2014.March.24.13
dc.identifier.fileWOS000334114800133.pdf
dc.identifier.issn1676-5680
dc.identifier.lattes2331180822532901
dc.identifier.urihttp://hdl.handle.net/11449/112629
dc.identifier.wosWOS:000334114800133
dc.language.isoeng
dc.publisherFunpec-editora
dc.relation.ispartofGenetics and Molecular Research
dc.relation.ispartofsjr0,439
dc.rights.accessRightsAcesso aberto
dc.sourceWeb of Science
dc.subjectStutteringen
dc.subjectLinkageen
dc.subjectDominanten
dc.subjectChromosome 10qen
dc.titleA genetic linkage study in Brazil identifies a new locus for persistent developmental stuttering on chromosome 10en
dc.typeArtigo
dcterms.rightsHolderFunpec-editora
unesp.author.lattes2331180822532901[6]
unesp.author.orcid0000-0002-9256-7623[7]
unesp.author.orcid0000-0001-9691-4672[6]
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências, Botucatupt
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Filosofia e Ciências, Maríliapt

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Artigos - Genética - IBB
Artigos - Fonoaudiologia - FFC