Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation
dc.contributor.author | Zechi-Ceide, Roseli Maria | |
dc.contributor.author | Guion-Almeida, Maria Leine | |
dc.contributor.author | de Oliveira Rodini, Elaine Sbroggio | |
dc.contributor.author | Jesus Oliveira, Nelio Alessandro | |
dc.contributor.author | Passos-Bueno, Maria Rita | |
dc.contributor.institution | Universidade de São Paulo (USP) | |
dc.contributor.institution | Universidade Estadual Paulista (Unesp) | |
dc.date.accessioned | 2014-05-20T13:25:38Z | |
dc.date.available | 2014-05-20T13:25:38Z | |
dc.date.issued | 2007-07-01 | |
dc.description.abstract | In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening or mutations at the IRF6 gene detected a pathogenic mutation (c.960G > C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C > G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed. | en |
dc.description.affiliation | USP, HRAC, Ctr Human Genome, Bauru, SP, Brazil | |
dc.description.affiliation | USP, Inst Biosci, Dept Genet & Evolutionary Biol, Bauru, SP, Brazil | |
dc.description.affiliation | Univ Estadual Paulista, Hosp Reabilitacao Anomalias Craniofaciais, Clin Genet, Bauru, SP, Brazil | |
dc.description.affiliation | Univ Estadual Paulista, Dept Biol Sci, Bauru, SP, Brazil | |
dc.description.affiliationUnesp | Univ Estadual Paulista, Hosp Reabilitacao Anomalias Craniofaciais, Clin Genet, Bauru, SP, Brazil | |
dc.description.affiliationUnesp | Univ Estadual Paulista, Dept Biol Sci, Bauru, SP, Brazil | |
dc.format.extent | 163-166 | |
dc.identifier | http://dx.doi.org/10.1097/MCD.0b013e3280739753 | |
dc.identifier.citation | Clinical Dysmorphology. Philadelphia: Lippincott Williams & Wilkins, v. 16, n. 3, p. 163-166, 2007. | |
dc.identifier.doi | 10.1097/MCD.0b013e3280739753 | |
dc.identifier.issn | 0962-8827 | |
dc.identifier.uri | http://hdl.handle.net/11449/8146 | |
dc.identifier.wos | WOS:000247674300005 | |
dc.language.iso | eng | |
dc.publisher | Lippincott Williams & Wilkins | |
dc.relation.ispartof | Clinical Dysmorphology | |
dc.relation.ispartofjcr | 0.427 | |
dc.relation.ispartofsjr | 0,268 | |
dc.rights.accessRights | Acesso restrito | |
dc.source | Web of Science | |
dc.subject | central nervous system malformation | pt |
dc.subject | cleft lip and palate | pt |
dc.subject | IRF6 gene | pt |
dc.subject | lower lip pits | pt |
dc.subject | Van der Woude syndrome | pt |
dc.title | Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation | en |
dc.type | Artigo | |
dcterms.license | http://journals.lww.com/_layouts/oaks.journals/nih.aspx | |
dcterms.rightsHolder | Lippincott Williams & Wilkins | |
unesp.author.orcid | 0000-0002-4526-3336[1] | |
unesp.author.orcid | 0000-0002-9248-3008[5] | |
unesp.campus | Universidade Estadual Paulista (Unesp), Faculdade de Ciências, Bauru | pt |
unesp.department | Ciências Biológicas - FC | pt |
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