2005年7月
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients
JOURNAL OF HUMAN GENETICS
- 巻
- 50
- 号
- 7
- 開始ページ
- 353
- 終了ページ
- 356
- 記述言語
- 英語
- 掲載種別
- DOI
- 10.1007/s10038-005-0267-3
- 出版者・発行元
- SPRINGER TOKYO
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome characterized by microcephaly, syndactyly of toes, ambiguous genitalia, and mental retardation. The underlying DHCR7 gene has been identified and a wide variety of distinct mutations were reported in USA and European SLOS patients. A significant difference has been suggested in the frequency of SLOS among different ethnic populations. Here, we report mutational analysis of seven Japanese SLOS patients. Five mutations, R352Q, R242H, G303R, X476Q, and S192F, were identified, and R352Q appeared most frequent, since nine out of the 13 mutations of Japanese origin were the same R352Q. These results suggest that R352Q is a predominant founder mutation in Japanese SLOS patients.
- リンク情報
- ID情報
-
- DOI : 10.1007/s10038-005-0267-3
- ISSN : 1435-232X
- Web of Science ID : WOS:000231421800005