Clinical and molecular characteristics of Thai patients with achondroplasia.
Achondroplasia is an autosomal dominant disorder characterized by disproportionately short stature, frontal bossing, rhizomelia, and trident hands. Most patients appear sporadically resulting from a de novo mutation associated with advanced paternal age. A glycine to arginine mutation at codon 380 (G380R) of the fibroblast growth factor receptor 3 gene (FGFR3) was found to be the most common cause of achondroplasia in various populations. We identified and clinically characterized 3 Thai patients with achondroplasia. In all of them, we also successfully identified the G380R mutation supporting the observation that this is the most common mutation in achondroplasia across different ethnic groups including Thai.
Shotelersuk
V
V
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. fmedvst@md2.md.chula.ac.th
Ittiwut
C
C
Srivuthana
S
S
Wacharasindhu
S
S
Aroonparkmongkol
S
S
Mutirangura
A
A
Poovorawan
Y
Y
D000130:Achondroplasia / Q000235:genetics / Q000473:pathology*; D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013785:Thailand
D017931:DNA Primers; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3