2006年6月
A novel splicing mutation of the ATRX gene in ATRA syndrome
BRAIN & DEVELOPMENT
- ,
- ,
- ,
- 巻
- 28
- 号
- 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
- ID情報
-
- DOI : 10.1016/j.braindev.2005.09.005
- ISSN : 0387-7604
- CiNii Articles ID : 10020330854
- Web of Science ID : WOS:000237542000009