title: R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
abstract: 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.
authors.affiliation: Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Matsumoto
authors.affiliation: Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
authors.forename: Ken-Ichi
authors.initials: KI
authors.lastname: Morishima
authors.affiliation: Department of Gastroenterology, University of Tsukuba, Tsukuba, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Honda
authors.affiliation: Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube, Japan.
authors.forename: Shoji
authors.initials: S
authors.lastname: Watabe
authors.affiliation: Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube, Japan.
authors.forename: Misa
authors.initials: M
authors.lastname: Yamamoto
authors.affiliation: General Isotope Center, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Hara
authors.affiliation: Hasui Pediatric Clinic, Kanazawa, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Hasui
authors.affiliation: Department of Psychiatrics, National Sanatorium Hokuriku Hospital, Joe-hana, Japan.
authors.forename: Chikako
authors.initials: C
authors.lastname: Saito
authors.affiliation: Department of Pediatrics, National Saga Hospital, Saga, Japan.
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Takayanagi
authors.affiliation: Department of Human Welfare, Okazaki Women's Junior College, Okazaki, Japan.
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Yamanaka
authors.affiliation: Shin-Koga Hospital, Kurume, Japan.
authors.forename: Nakamichi
authors.initials: N
authors.lastname: Saito
authors.affiliation: Asahigawasou Ryoiku Center Ryoikuen, Okayama, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Kudo
authors.affiliation: Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Tsukahara
authors.affiliation: Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan. shinya@hiroshima-u.ac.jp.
authors.forename: Shinya
authors.initials: S
authors.lastname: Matsuura
mesh_terms: D002460:Cell Line; D002784:Cholesterol / Q000097:blood; D004252:DNA Mutational Analysis; D017931:DNA Primers; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007564:Japan / Q000453:epidemiology; D020125:Mutation, Missense / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D019082:Smith-Lemli-Opitz Syndrome / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D017931:DNA Primers; D002784:Cholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase