Journal of Orthopaedic Surgery (Dec 2007)
Congenital Insensitivity to Pain with Anhydrosis in a Malaysian Family: A Genetic Analysis
Abstract
A Malaysian family with congenital insensitivity to pain with anhydrosis was diagnosed based on clinical symptoms of chronic ulcers, joint deformities, malunited fractures, anhydrosis, and learning disabilities. We detected a compound heterozygous mutation in exon 16: V709L from the mother and G718S from the father. Two novel mutations were identified: at amino acid 709, a change of G to C at nucleotide 2209 (∼2209G→C) causing a valine to leucine substitution (V709L), and at amino acid 718, a change of G to A at nucleotide 2236 (∼2236G→A) causing a glycine to serine substitution (G718S). Polymorphisms identified were at nucleotides ∼2113G→C and ∼2176T→C.