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Molecular defects in achondroplasia and the effects of growth hormone treatment
Author(s) -
Seino Y,
Moriwake T,
Tanaka H,
Inoue M,
Kanzaki S,
Tanaka T,
Matsuo N,
Niimi H
Publication year - 1999
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1999.tb14369.x
Subject(s) - achondroplasia , medicine , fibroblast growth factor receptor 3 , dysplasia , dwarfism , endocrinology , short stature , osteochondrodysplasia , fibroblast growth factor receptor , mutation , fibroblast growth factor , pediatrics , receptor , genetics , pathology , biology , gene
Seino Y, Moriwake T, Tanaka H, Inoue M, Kanzaki S, Tanaka T, Matsuo N, Niimi H. Molecular defects in achondroplasia and the effects of growth hormone treatment. Acta Pa; diatr 1999; Suppl 428: 118–20. Stockholm. ISSN 0803–5326 Achondroplasia is a common skeletal dysplasia with severe growth retardation. Recently, mutations in the fibroblast growth factor receptor 3 (FGFR3) were identified in patients with achondroplasia. In the present study, 70 of 75 Japanese patients with achondroplasia were found to have a G1138A mutation in FGFR3, and two patients had a G1138C mutation. Growth hormone therapy was given to 145 patients with achondroplasia. Significant dose‐dependent effects on skeletal growth were obtained, with no long‐term adverse effects. □ Achondroplasia, fibroblast growth factor receptor, growth hormone therapy, growth, skeletal dysplasia