Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA).

Abstract excerpt

INTRODUCTION: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder resulting from NTRK1 mutation. Over 105 NTRK1 mutations have been reported in CIPA patients worldwide. The causative NTRK1 mutations lead to loss of function of the TrkA protein, an important ligand for nerve growth factor (NGF), and therefore induce various clinical phenotypes associated with neuron...

Topics

• Adolescent
• Asian People
• Child
• Child, Preschool
• Female
• Genetic Predisposition to Disease
• Hereditary Sensory and Autonomic Neuropathies
• Humans
• Male
• Mutation
• Pedigree