[P2-192] No mutation in NTRK1 or NGF in a Chinese Patient with Hereditary Sensory and Autonomic Neuropathy Type IV
Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis (CIPA), is a rare autosomal recessive disease which is characterized by childhood onset of a lack of pain sensation, anhidrosis and mental retardation. Mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1) responsible for neurotrophin signaling pathway have been associated with this disorder. In this study, we performed genetic analysis on the NTRK1 and nerve growth factor (NGF) genes in a Chinese patient with HSAN IV. The patient had classical clinical manifestations of HSAN IV, including anhidrosis, recurrent fever, absent pain perception, and mild developmental delay. No possible pathogenic mutation in NTRK1 or NGF genes was found. The result indicates that genetic heterogeneity may be present in HSAN IV and further research is necessary to clarify the disorder.