Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis

Shalimar A, Sharaf I, Farah Wahida I, Ruszymah BH
Department of Orthopaedics and Traumatology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia

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 to C) causing a valine to leucine substitution (V709L), and at amino acid 718, a change of G to A at nucleotide 2236 (~2236G to A) causing a glycine to serine substitution (G718S). Polymorphisms identified were at nucleotides ~2113G to C and ~2176T to C.