title: Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.
abstract: We examined mutations of the doublecortin (DCX) gene, which is responsible for X-linked subcortical laminar heterotopia (SCLH) and lissencephaly, in eight unrelated Japanese patients, four with SCLH and four with isolated lissencephaly sequence (ILS). Polymerase chain reaction (PCR) disclosed a deletion of part of the DCX gene in one male ILS patient. Single-strand conformational polymorphism analysis and subsequent sequence analysis were carried out in the remaining seven patients. One male ILS patient had a nonsense mutation in exon V, which would result in premature termination of the gene product. One female SCLH patient had a missense mutation in exon IV. Our results indicate that in the Japanese, as has been seen elsewhere, abnormality of the DCX gene is the common cause of SCLH and ILS.
authors.affiliation: Department of Medical Genetics, Biomedical Research Center, Osaka University Medical School, Japan. michiko@gen-info.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: Y
authors.initials: Y
authors.lastname: Nakamura
authors.forename: H
authors.initials: H
authors.lastname: Kurahashi
mesh_terms: D001921:Brain; D001927:Brain Diseases / Q000235:genetics*; D002540:Cerebral Cortex / Q000002:abnormalities*; D002828:Choristoma / Q000235:genetics*; D004252:DNA Mutational Analysis; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008869:Microtubule-Associated Proteins; D009154:Mutation; D009479:Neuropeptides / Q000235:genetics*; D014960:X Chromosome
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides