Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.

Abstract excerpt

Hereditary sensory and autonomic neuropathy type IV (HSAN IV) or congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal-recessive disorder affecting the neurotrophin signal transduction pathway. HSAN IV is characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, self mutilating behaviour and frequent mental retardation. Mutations in the neurotrophic...

Topics

Join the communities discussing this publication.

• Gene Deletion
• Hereditary Sensory and Autonomic Neuropathies
• Heterozygote
• Homozygote