Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence

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dc.contributor.authorElias, Renata C.
dc.contributor.authorGalera, Marcial F.
dc.contributor.authorSchnabel, Beatriz
dc.contributor.authorBriones, Marcelo R. S.
dc.contributor.authorBorri, Maria L.
dc.contributor.authorLipay, Monica
dc.contributor.authorCarvalheira, Gianna
dc.contributor.authorBrunoni, Decio
dc.contributor.authorMelaragno, Maria I.
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Cuiaba
dc.date.accessioned2016-01-24T12:41:18Z
dc.date.available2016-01-24T12:41:18Z
dc.date.issued2006-07-01
dc.description.abstractClassical lissencephaly is a neuroblast migration disorder that occurs either as isolated lissencephaly sequence or in association with malformation syndromes, such as the Miller-Dieker syndrome. in this work, alterations of the LIS1 gene in patients diagnosed as having isolated lissencephaly sequence were investigated. Ten patients were evaluated for the following aspects: classical cytogenetics by karyotyping using solid staining and G-banding; molecular cytogenetics using fluorescent in situ hybridization with a specific probe for the critical region of isolated lissencephaly sequence; and molecular analysis using deoxyribonucleic acid sequencing. Classical cytogenetic analysis indicated apparently normal karyotypes in all patients, but fluorescent in situ hybridization revealed a 17p13.3 microdeletion in one. in another patient, deoxyribonucleic acid sequencing disclosed a 1 base pair insertion in exon 4 within a sequence of eight consecutive adenine residues (162-163insA), a mutation that predicts a truncated protein. Two different polymorphisms were also detected: a T > C substitution in intron 6 (c.568 + 27bp T > C) and a C > T substitution in the nontranslated region of exon 11 (1250 C > T). These results indicate that cytogenetic analysis and molecular investigation of the LIS1 gene are not always sufficient to determine the disease etiology. These findings are consistent with previous studies and suggest the involvement of other genes in cortical malformation. (c) 2006 by Elsevier Inc. All rights reserved.en
dc.description.affiliationUniversidade Federal de São Paulo, Dept Morfol, Disciplina Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Microbiol Imunol & Parasitol, BR-04023900 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Diagnost Imagen, BR-04023900 São Paulo, Brazil
dc.description.affiliationUniv Cuiaba, Fac Med, Disciplina Embriol, Cuiaba, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Morfol, Disciplina Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Microbiol Imunol & Parasitol, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Diagnost Imagen, BR-04023900 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent42-46
dc.identifierhttp://dx.doi.org/10.1016/j.pediatrneurol.2005.12.001
dc.identifier.citationPediatric Neurology. New York: Elsevier B.V., v. 35, n. 1, p. 42-46, 2006.
dc.identifier.doi10.1016/j.pediatrneurol.2005.12.001
dc.identifier.issn0887-8994
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/29013
dc.identifier.wosWOS:000239190400008
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofPediatric Neurology
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.titleDeletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequenceen
dc.typeinfo:eu-repo/semantics/article
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