Journal of Orthopaedic Surgery (Dec 2007)

Congenital Insensitivity to Pain with Anhydrosis in a Malaysian Family: A Genetic Analysis

  • A Shalimar,
  • I Sharaf,
  • I Farah Wahida,
  • BHI Ruszymah

DOI
https://doi.org/10.1177/230949900701500323
Journal volume & issue
Vol. 15

Abstract

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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.