R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
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.
Matsumoto
Yoshiyuki
Y
Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
Morishima
Ken-Ichi
KI
Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
Honda
Akira
A
Department of Gastroenterology, University of Tsukuba, Tsukuba, Japan.
Watabe
Shoji
S
Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube, Japan.
Yamamoto
Misa
M
Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube, Japan.
Hara
Masayuki
M
General Isotope Center, Tokyo Medical and Dental University, Tokyo, Japan.
Hasui
Masaki
M
Hasui Pediatric Clinic, Kanazawa, Japan.
Saito
Chikako
C
Department of Psychiatrics, National Sanatorium Hokuriku Hospital, Joe-hana, Japan.
Takayanagi
Toshimitsu
T
Department of Pediatrics, National Saga Hospital, Saga, Japan.
Yamanaka
Tsutomu
T
Department of Human Welfare, Okazaki Women's Junior College, Okazaki, Japan.
Saito
Nakamichi
N
Shin-Koga Hospital, Kurume, Japan.
Kudo
Hideaki
H
Asahigawasou Ryoiku Center Ryoikuen, Okayama, Japan.
Okamoto
Nobuhiko
N
Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Tsukahara
Masato
M
Faculty of Health Sciences, Yamaguchi University School of Medicine, Ube, Japan.
Matsuura
Shinya
S
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.
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*
D017931:DNA Primers; D002784:Cholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase