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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1016/j.bbagrm.2016.04.008

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1435-232X

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Genetic alteration of the iDCX/i gene in Japan

Authors: Michiko Sakamoto Jiro Ono Shintaro Okada Yusuke Nakamura Hiroki Kurahashi
Publish Date: 2000/05
Volume: 45, Issue: 3, Pages: 167-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptWe examined mutations of the doublecortin DCX gene which is responsible for Xlinked 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 Singlestrand 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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