title: 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 (approximately 2209G to C) causing a valine to leucine substitution (V709L), and at amino acid 718, a change of G to A at nucleotide 2236 (approximately 2236G to A) causing a glycine to serine substitution (G718S). Polymorphisms identified were at nucleotides approximately 2113G to C and approximately 2176T to C.
authors.affiliation: Department of Orthopaedics and Traumatology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia. kelapa44@yahoo.com
authors.forename: A
authors.initials: A
authors.lastname: Shalimar
authors.forename: I
authors.initials: I
authors.lastname: Sharaf
authors.forename: I
authors.initials: I
authors.lastname: Farah Wahida
authors.forename: B Hi
authors.initials: BH
authors.lastname: Ruszymah
mesh_terms: D000293:Adolescent; D044466:Asian People; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000208:ethnology / Q000235:genetics*; D008296:Malaysia; D008297:Male; D000699:Pain Insensitivity, Congenital / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic