Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients.

Abstract excerpt

BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive autonomic and sensory neuropathy. CIPA is associated with various mutations in NTRK1. CASES: Two unrelated Chinese patients presented separately with symptoms of insensitivity to pain, inability to sweat, repeated painless fractures, and Charcot arthropathy were recruited. Both of them were clinically...

Topics

• Amino Acid Sequence
• Animals
• Asian People
• Base Sequence
• Child
• Female
• Hereditary Sensory and Autonomic Neuropathies
• Humans
• Male
• Mutation
• Pedigree