Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence

Michiko Sakamoto, Jiro Ono, Shintaro Okada, Yusuke Nakamura, Hiroki Kurahashi

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)167-170
Number of pages4
JournalJournal of Human Genetics
Volume45
Issue number3
DOIs
Publication statusPublished - 01-01-2000

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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