[Updated treatment of achondroplasia].
In achondroplasia, the mutation is an almost non-variable mutation in the transmembrane part of the receptor, G1138A/C, giving rise to a change in the amino acid sequence at position 380 in the protein (glycine to an arginine residue transition- Gly380Arg [G380R] . In hypochondroplasia, about 30-70% of individuals have been reported to be heterozygous for a mutation in the FGFR3 gene. The most common mutation found is the Asn540Lys (asparagine to lysine transition-N540K) in the intracellular tyrosine-kinase (TK1) region. GH Treatment significantly increased height, growth velocity and z-score of growth velocity GH therapy was more effective in hypochondroprasia than in achondroplasia. Increasing stature in individuals with skeletal dysplasias can also be accomplished by surgical leg lengthening.
Seino
Yoshiki
Y
Osaka Koseinenkin Hospital.
D000130:Achondroplasia / Q000235:genetics / Q000628:therapy*; D001852:Bone Lengthening; D002648:Child; D005260:Female; D013006:Growth Hormone / Q000627:therapeutic use; D006801:Humans; D007867:Leg Bones / Q000601:surgery; D008297:Male; D017354:Point Mutation; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics
D017468:Receptors, Fibroblast Growth Factor; D013006:Growth Hormone