Congenital insensitivity to pain with anhydrosis in a Malaysian family

a genetic analysis.

Research output: Contribution to journalArticle

8 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)357-360
Number of pages4
JournalJournal of orthopaedic surgery (Hong Kong)
Volume15
Issue number3
Publication statusPublished - Dec 2007

Fingerprint

Congenital Pain Insensitivity
Nucleotides
Malunited Fractures
Amino Acids
Mutation
Learning Disorders
Valine
Leucine
Fathers
Glycine
Serine
Ulcer
Exons
Joints
Mothers

ASJC Scopus subject areas

  • Surgery

Cite this

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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.",
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