Expanded HSAN4 phenotype associated with two novel mutations in NTRK1.
Hereditary sensory and autonomic neuropathy type IV (HSAN4) is a severe autosomal recessive disorder characterized by childhood onset of sensory and autonomic dysfunction leading to hyperthermia, recurrent infections and physical impairment due to complications of osteoarthritis. Cognitive impairment and aggressive behaviour is common. HSAN4 is caused by mutations in the NTRK1 gene coding for the tyrosine kinase receptor A. We present detailed description of a rare, mild HSAN4 phenotype associated with two novel NTRK1 mutations. This Swedish patient presents with an adult onset of painful Charcot arthropathy, prolonged wound healing, discrete polyneuropathy, hypohidrosis without further autonomic dysfunction and no cognitive affection.
Wieczorek
Stefan
S
Ruhr-University, Human Genetics, 44780 Bochum, Germany. stefan.wieczorek@rub.de
Bergström
Jonas
J
Sääf
Maria
M
Kötting
Judith
J
Iwarsson
Erik
E
D000328:Adult; D000842:Ankle / Q000000981:diagnostic imaging; D001177:Arthropathy, Neurogenic / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D004576:Electromyography; D004594:Electrophysiology; D005091:Exons / Q000235:genetics; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D006801:Humans; D009154:Mutation / Q000235:genetics; D009460:Neurologic Examination; D010641:Phenotype; D011859:Radiography; D020917:Receptor, trkA / Q000235:genetics*; D012035:Refsum Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D020133:Reverse Transcriptase Polymerase Chain Reaction
D020917:Receptor, trkA