Molecular defects in achondroplasia and the effects of growth hormone treatment

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