Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis from deinnervated sweat glands, and delayed mental
and motor development. Mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1), a receptor in the neurotrophin signaling pathway phosphorylated in response to nerve growth factor, are associated with this disorder. We identified six families from Northern Central Turkey with HSAN IV.
We screened the NTRK1 gene for mutations in these families. Microsatellite and single nucleotide polymorphism (SNP) markers on the Affymetrix 250K chip platform were used to determine the haplotypes
that they share the same haplotype.
This report broadens the spectrum of mutations in NTRK1 that cause HSAN IV and demonstrates a founder mutation in the Turkish population.
Authors
- Beyhan Tüysüz
- Fatih Bayrakli
- Michael L. DiLuna
- Kaya Bilguvar
- Yasar Bayri
- Cengiz Yalcinkaya
- Aysegul Bursali
- Elif Ozdamar
- Baris Korkmaz
- Christopher E. Mason
- Ali K. Ozturk
- Richard P. Lifton
- Matthew W. State
- Murat Gunel