Molecular defects in achondroplasia and the effects of growth hormone treatment.
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.
Seino
Y
Y
Department of Pediatrics, Okayama University Medical School, Japan.
Moriwake
T
T
Tanaka
H
H
Inoue
M
M
Kanzaki
S
S
Tanaka
T
T
Matsuo
N
N
Niimi
H
H
D000130:Achondroplasia / Q000150:complications / Q000188:drug therapy* / Q000235:genetics*; D001827:Body Height / Q000187:drug effects*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000188:drug therapy / Q000209:etiology; D019382:Human Growth Hormone / Q000008:administration & dosage*; D006801:Humans; D008297:Male; D008967:Molecular Biology; D009154:Mutation; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D016896:Treatment Outcome
D017468:Receptors, Fibroblast Growth Factor; D019382:Human Growth Hormone