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Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

dc.contributor.authorIanakiev, P.
dc.contributor.authorvan Baren, M. J.
dc.contributor.authorDaly, M. J.
dc.contributor.authorToledo, SPA
dc.contributor.authorCavalcanti, M. G.
dc.contributor.authorNeto, J. C.
dc.contributor.authorSilveira, E. L.
dc.contributor.authorFreire-Maia, A.
dc.contributor.authorHeutink, P.
dc.contributor.authorKilpatrick, M. W.
dc.contributor.authorTsipouras, P.
dc.contributor.institutionUniv Connecticut
dc.contributor.institutionErasmus Univ
dc.contributor.institutionWhitehead Inst Biomed Res
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T13:50:05Z
dc.date.available2014-05-20T13:50:05Z
dc.date.issued2001-01-01
dc.description.abstractAcheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition appears to affect only the extremities, with no other systemic manifestations reported. Recently, a locus for acheiropodia was mapped on chromosome 7q36. Herein we report the narrowing of the critical region for the acheiropodia gene and the subsequent identification of a common mutation in C7orf2-the human orthologue of the mouse Lmbr1 gene-that is responsible for the disease. Analysis of five families with acheiropodia, by means of 15 polymorphic markers, narrowed the critical region to 1.3 cM, on the basis of identity by descent, and to <0.5 Mb, on the basis of physical mapping. Analysis of C7orf2, the human orthologue of the mouse Lmbr1 gene, identified a deletion in all five families, thus identifying a common acheiropodia mutation. The deletion was identified at both the genomic-DNA and mRNA level. It leads to the production of a C7orf2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3. Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development.en
dc.description.affiliationUniv Connecticut, Ctr Hlth, Dept Pediat, Farmington, CT 06030 USA
dc.description.affiliationErasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
dc.description.affiliationWhitehead Inst Biomed Res, Cambridge, MA 02142 USA
dc.description.affiliationUniv São Paulo, Sch Med, São Paulo, Brazil
dc.description.affiliationUniv Estadual Paulista, UNESP, Dept Genet, Botucatu, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, UNESP, Dept Genet, Botucatu, SP, Brazil
dc.format.extent38-45
dc.identifierhttp://dx.doi.org/10.1086/316955
dc.identifier.citationAmerican Journal of Human Genetics. Chicago: Univ Chicago Press, v. 68, n. 1, p. 38-45, 2001.
dc.identifier.doi10.1086/316955
dc.identifier.fileWOS000166399900004.pdf
dc.identifier.issn0002-9297
dc.identifier.urihttp://hdl.handle.net/11449/17868
dc.identifier.wosWOS:000166399900004
dc.language.isoeng
dc.publisherUniv Chicago Press
dc.relation.ispartofAmerican Journal of Human Genetics
dc.relation.ispartofjcr8.855
dc.relation.ispartofsjr7,450
dc.rights.accessRightsAcesso aberto
dc.sourceWeb of Science
dc.titleAcheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 geneen
dc.typeArtigo
dcterms.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dcterms.rightsHolderUniv Chicago Press
dspace.entity.typePublication
unesp.author.orcid0000-0002-4516-2121[7]
unesp.campusUniversidade Estadual Paulista (UNESP), Instituto de Biociências, Botucatupt
unesp.departmentGenética - IBBpt

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