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
Publication statusPublished - 09-06-2000
Externally publishedYes

Fingerprint

Classical Lissencephalies and Subcortical Band Heterotopias
Genes
Exons
Lissencephaly
Nonsense Codon
Missense Mutation
Sequence Analysis
Polymerase Chain Reaction
Mutation

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Cite this

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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.",
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Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence. / Sakamoto, Michiko; Ono, Jiro; Okada, Shintaro; Nakamura, Yusuke; Kurahashi, Hiroki.

In: Journal of Human Genetics, Vol. 45, No. 3, 09.06.2000, p. 167-170.

Research output: Contribution to journalArticle

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AU - Sakamoto, Michiko

AU - Ono, Jiro

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AU - Nakamura, Yusuke

AU - Kurahashi, Hiroki

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