論文

査読有り
2006年6月

A novel splicing mutation of the ATRX gene in ATRA syndrome

BRAIN & DEVELOPMENT
  • T Wada
  • ,
  • M Sakakibara
  • ,
  • Y Fukushima
  • ,
  • S Saitoh

28
5
開始ページ
322
終了ページ
325
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.braindev.2005.09.005
出版者・発行元
ELSEVIER SCIENCE BV

X-linked alpha-thalassemia/mental retardation syndrome (ATR-X, MIM#301040) is an X-linked recessive condition affecting males. ATR-X is characterized by severe mental retardation, mild HbH disease, dysmorphic facies, and genital and skeletal abnormalities. ATR-X is caused by mutations in the ATRX gene. Most mutations affect two functionally important domains, the ADD domain and the helicase domain. Here, we report on two brothers with the ATR-X phenotype without HbH disease; both had a mutation in the 5' upstream region of the ADD domain of the ATRX gene. This mutation was a G to T nucleotide substitution at the 3' end of exon 5 and resulted in splicing out of exons 5 and 6. Analysis of cDNA structure may clarify genotype-phenotype correlations in ATR-X because splicing mutation could be detectable only by cDNA analysis. (c) 2006 Elsevier B.V. All rights reserved.

リンク情報
DOI
https://doi.org/10.1016/j.braindev.2005.09.005
CiNii Articles
http://ci.nii.ac.jp/naid/10020330854
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000237542000009&DestApp=WOS_CPL
ID情報
  • DOI : 10.1016/j.braindev.2005.09.005
  • ISSN : 0387-7604
  • CiNii Articles ID : 10020330854
  • Web of Science ID : WOS:000237542000009

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