title: [Updated treatment of achondroplasia].
abstract: 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.
authors.affiliation: Osaka Koseinenkin Hospital.
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Seino
mesh_terms: 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
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D013006:Growth Hormone