title: Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome.
abstract: LIS1 is a genetic entity that is responsible for lissencephaly. Previously we have reported isolated lissencephaly sequence (ILS) in a Japanese patient carrying a balanced chromosomal translocation that disrupted the LIS1 gene. We examined mutations of LIS1 in 12 additional Japanese patients, 8 of them with ILS and 4 with Miller-Dieker syndrome (MDS). Fluorescence in situ hybridization (FISH) analysis disclosed deletions of part of the LIS1 gene or of the chromosomal region surrounding it in three of the ILS cases and in three of the MDS cases. In one of the remaining five ILS cases, SSCP analysis and subsequent sequence analysis identified a 1-bp deletion in exon IV, which can be expected to result in premature termination of the gene product. Our results indicate that in Japan, as elsewhere, abnormality of the LIS1 gene is a common cause of MDS/ILS.
authors.affiliation: Department of Medical Genetics, Biomedical Research Center, Suita, Osaka, Japan. sakamoto@clgene.med.osaka-u.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Sakamoto
authors.forename: J
authors.initials: J
authors.lastname: Ono
authors.forename: S
authors.initials: S
authors.lastname: Okada
authors.forename: M
authors.initials: M
authors.lastname: Masuno
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
authors.forename: H
authors.initials: H
authors.lastname: Kurahashi
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D001921:Brain / Q000002:abnormalities*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007564:Japan; D007621:Karyotyping; D008297:Male; D008869:Microtubule-Associated Proteins; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics; D013577:Syndrome
chemical_list: D008869:Microtubule-Associated Proteins; D011506:Proteins; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human