Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly

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dc.contributor.authorPereira Bertolacini, Claudia Danielli [UNESP]
dc.contributor.authorRichieri-Costa, Antonio
dc.contributor.authorRibeiro-Bicudo, Lucilene Arilho
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T13:50:24Z
dc.date.available2014-05-20T13:50:24Z
dc.date.issued2010-03-01
dc.description.abstractHoloprosencephaly (HPE) is a malformation sequence where the cerebral hemispheres fail to separate into distinct left and right halves. It can be associated with midline structural anomalies of the central nervous system and/or face. SHH is the major gene implicated in HPE and it plays a critical role in early forebrain and central nervous system development. SHH is expressed in the human embryo in the notochord, the floorplate of the neural tube, and the posterior limb buds. In the present Study we performed mutational analysis of the entire coding region of the SHH gene in 37 Unrelated individuals with the HPE spectrum. Three different variants were found throughout the extent of the gene. No genotype-phenotype correlation is evident based oil the type or position of the mutations. This study confirms the great genetic heterogeneity of the disease and the difficulty to establish genotype-phenotype correlations. (C) 2009 Elsevier B.V. All rights reserved.en
dc.description.affiliationUSP Bauru, Dept Genet, Hosp Reabilitacao Anomalias Craniofaciais, Bauru, SP, Brazil
dc.description.affiliationUniv Estadual Paulista, Dept Genet, Botucatu, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Dept Genet, Botucatu, SP, Brazil
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipIdFAPESP: 03/00165-8
dc.description.sponsorshipIdFAPESP: 06/60973-9
dc.description.sponsorshipIdCNPq: 470996/2006-4
dc.description.sponsorshipIdCNPq: 301926/2007-7
dc.format.extent217-222
dc.identifierhttp://dx.doi.org/10.1016/j.braindev.2009.02.014
dc.identifier.citationBrain & Development. Amsterdam: Elsevier B.V., v. 32, n. 3, p. 217-222, 2010.
dc.identifier.doi10.1016/j.braindev.2009.02.014
dc.identifier.issn0387-7604
dc.identifier.urihttp://hdl.handle.net/11449/17989
dc.identifier.wosWOS:000275086500007
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofBrain & Development
dc.relation.ispartofjcr1.544
dc.relation.ispartofsjr0,686
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.subjectSHHen
dc.subjectMutationen
dc.subjectHoloprosencephalyen
dc.subjectPolymorphismen
dc.titleSonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephalyen
dc.typeArtigo
dcterms.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dcterms.rightsHolderElsevier B.V.
unesp.author.orcid0000-0002-3716-336X[3]
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências, Botucatupt

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