DHCR7基因的R352Q突变在日本史密斯-勒米-奥皮茨综合征患者中很常见。
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
作者信息
Matsumoto Yoshiyuki, Morishima Ken-Ichi, Honda Akira, Watabe Shoji, Yamamoto Misa, Hara Masayuki, Hasui Masaki, Saito Chikako, Takayanagi Toshimitsu, Yamanaka Tsutomu, Saito Nakamichi, Kudo Hideaki, Okamoto Nobuhiko, Tsukahara Masato, Matsuura Shinya
机构信息
Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
Department of Gastroenterology, University of Tsukuba, Tsukuba, Japan.
出版信息
J Hum Genet. 2005;50(7):353-356. doi: 10.1007/s10038-005-0267-3. Epub 2005 Jul 26.
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.
史密斯-勒米-奥皮茨综合征（SLOS）是一种常染色体隐性畸形综合征，其特征为小头畸形、脚趾并指、生殖器模糊及智力发育迟缓。已确定相关的DHCR7基因，在美国和欧洲的SLOS患者中报道了多种不同的突变。不同种族人群中SLOS的发病率存在显著差异。在此，我们报告了对7例日本SLOS患者的突变分析。鉴定出5种突变，即R352Q、R242H、G303R、X476Q和S192F，其中R352Q最为常见，因为13种日本起源的突变中有9种是相同的R352Q。这些结果表明，R352Q是日本SLOS患者中的主要始祖突变。
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