Journal of human genetics · 2005
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
Сравнительное исследованиеСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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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
Аннотация
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.