Insensitivity to pain, congenital, with anhidrosis
OMIM:256800Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | NTRK1 |
|---|---|
| Reference transcript | NM_001012331.1 |
| DNA Change | c.207_208 delTG |
| A.A. Change | p.Glu70Alafs*16 |
| Exon/Intron | exon 1 |
| Mutation Type | deletion |
| Reference | Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC.Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. Clin Genet. 2009 Mar;75(3):230-6. |