Article
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
American journal of medical genetics. Part A - 1 Apr 2017
Altassan Ruqaiah, Saud Haya Al, Masoodi Tariq Ahmad, Dosssari Haya Al, Khalifa Ola, Al-Zaidan Hamad, Sakati Nadia, Rhabeeni Zuhair, Al-Hassnan Zuhair, Binamer Yousef, Alhashemi Nadia, Wade William, Al-Zayed Zayed, Al-Sayed Moeen, Al-Muhaizea Mohamed A, Meyer Brian, Al-Owain Mohammad, Wakil Salma M
Abstract excerpt
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability. HSAN-IV is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene, NTRK1, encoding the high-affinity receptor of nerve growth...
Topics
- Adolescent
- Base Sequence
- Child
- Child, Preschool
- Chromosomes, Human, Pair 1
- Codon, Nonsense
- Consanguinity
- Exome
- Female
- Gene Expression