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

研究成果: Article

4 引用 (Scopus)

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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.

元の言語English
ページ(範囲)167-170
ページ数4
ジャーナルJournal of Human Genetics
45
発行部数3
DOI
出版物ステータスPublished - 01-01-2000
外部発表Yes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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