R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients
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DOI：
10.1007/s10038-005-0267-3
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发表时间：
2005-07-01
影响因子：
3.5
通讯作者：
Matsuura, S
中科院分区：
文献类型：
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作者：
Matsumoto, Y;Morishima, K;Matsuura, S
Smith-Lemli-Opitz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、脚趾并指畸形、生殖器模糊和智力低下。已经确定了潜在的DHCR7基因，并在美国和欧洲SLOS患者中报告了各种不同的突变。不同种族人群的SLOS发生率存在显著差异。在这里，我们报告了7例日本SLOS患者的突变分析。发现了5个突变，R352Q、R242H、G303R、X476Q和S192F，其中R352Q出现频率最高，因为日本起源的13个突变中有9个是相同的R352Q。这些结果表明，R352Q是日本SLOS患者的主要创始突变。
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.