Identification of a growth hormone mutation responsible for short stature.
A heterozygous single base missense substitution in exon 4, which converted codon 77 from arginine to cysteine, has been identified in a child with severe growth retardation. The mutant GH fails to stimulate GH signal transduction by itself, despite possessing a higher affinity than the wild-type molecule for GHBP, and appears to have a dominant antagonistic effect on the protein phosphorylation activity of wild-type GH.
Chihara
K
K
Department of Medicine, Kobe University School of Medicine, Japan.
D001827:Body Height / Q000235:genetics*; D002675:Child, Preschool; D013006:Growth Hormone / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation
D013006:Growth Hormone