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

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dc.contributor.author Elias, Renata C.
dc.contributor.author Galera, Marcial F.
dc.contributor.author Schnabel, Beatriz
dc.contributor.author Briones, Marcelo R. S.
dc.contributor.author Borri, Maria L.
dc.contributor.author Lipay, Monica
dc.contributor.author Carvalheira, Gianna
dc.contributor.author Brunoni, Decio
dc.contributor.author Melaragno, Maria I.
dc.date.accessioned 2016-01-24T12:41:18Z
dc.date.available 2016-01-24T12:41:18Z
dc.date.issued 2006-07-01
dc.identifier http://dx.doi.org/10.1016/j.pediatrneurol.2005.12.001
dc.identifier.citation Pediatric Neurology. New York: Elsevier B.V., v. 35, n. 1, p. 42-46, 2006.
dc.identifier.issn 0887-8994
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/29013
dc.description.abstract Classical 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.format.extent 42-46
dc.language.iso eng
dc.publisher Elsevier B.V.
dc.relation.ispartof Pediatric Neurology
dc.rights Acesso restrito
dc.title Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence en
dc.type Artigo
dc.rights.license http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.contributor.institution Univ Cuiaba
dc.description.affiliation Universidade Federal de São Paulo, Dept Morfol, Disciplina Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Dept Microbiol Imunol & Parasitol, BR-04023900 São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Dept Diagnost Imagen, BR-04023900 São Paulo, Brazil
dc.description.affiliation Univ Cuiaba, Fac Med, Disciplina Embriol, Cuiaba, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Dept Morfol, Disciplina Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Dept Microbiol Imunol & Parasitol, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Dept Diagnost Imagen, BR-04023900 São Paulo, Brazil
dc.identifier.doi 10.1016/j.pediatrneurol.2005.12.001
dc.description.source Web of Science
dc.identifier.wos WOS:000239190400008



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