Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients |
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| Authors: | Shiro Ikegawa Yoshimitsu Fukushima Minoru Isomura Fumio Takada Yusuke Nakamura |
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| Institution: | (1) Department of Biochemistry, Cancer Institute, 1-37-1 Kami-Ikebukuro, Toshima-ku, 170 Tokyo, Japan;(2) Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, 4-6-1 Shiroganedai, Minato-ku, 108 Tokyo, Japan;(3) Division of Medical Genetics, Saitama Children's Medical Center, 2001 Magome, Iwatsuki-shi, 339 Saitama, Japan;(4) Departments of Pediatrics and Molecular Biology, Kitasato University, School of Medicine, 1-15-1 Kitasato, Sagamihara-shi, 228 Kanagawa, Japan |
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| Abstract: | Achondroplasia, the most common cause of chondrodysplasia in man, is characterized by short-limbed dwarfism, macrocephaly, and dysplasia of metaphyses of the tubular bones. Recently, mutations in the gene encoding fibroblast growth factor receptor-3 (FGFR-3) have been found in patients with achondroplasia. All mutations so far reported had occurred at codon 380, resulting in the substitution of an arginine for a glycine in the transmembrane domain of the predicted protein. We have examined the transmembrane domain of the FGFR-3 gene in seven Japanese patients with achondroplasia. Of the six cases that were sporadic, all carried a mutation in codon 380; the single familial case bore a novel mutation of a G-to-T transition at codon 375, which resulted in substitution of a cysteine for a glycine. |
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