Article
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Clinical genetics - 1 Apr 2007
Goldberg Y P, MacFarlane J, MacDonald M L, Thompson J, Dube M-P, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband H B, Green R, Duff A, Boltshauser E, Grinspan G A, Dimon J H, Sibley B G, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone S N, Samuels M E, Sherrington R, Hayden M R
Abstract excerpt
Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from nine families of seven different nationalities in which the affected individuals meet the diagnostic criteria for CIP. Using homozygosity mapping and haplotype sharing methods, we narrowed the CIP locus to...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 2
- Codon, Nonsense
- DNA Mutational Analysis
- Female
- Founder Effect
- Frameshift Mutation
- Genetics, Population