{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T21:40:10Z","timestamp":1773092410673,"version":"3.50.1"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"King Faisal Specialist Hospital and Research Center KFSHRC","award":["RAC 214-0013"],"award-info":[{"award-number":["RAC 214-0013"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>Hereditary sensory autonomic neuropathy type IV (HSAN\u2010IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self\u2010mutilating behavior, and intellectual disability. HSAN\u2010IV is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene, NTRK1, encoding the high\u2010affinity receptor of nerve growth factor (NGF) which maps to chromosome 1q21\u2010q22. Patients with HSAN\u2010IV lack all NGF\u2010dependent neurons, the primary afferents and sympathetic postganglionic neurons leading to lack of pain sensation and the presence of anhidrosis, respectively. Herein, we report nine patients from nine unrelated families with HSAN\u2010IV due to various mutations in NTRK1, five of which are novel. These are three missense and two nonsense mutations distributed in various domains of NTRK1 involved in binding of NGF. The affected patients had variable intellectual deficits, and some had delayed diagnosis of HSAN\u2010IV. In addition to being the first report of HSAN\u2010IV from the Arabian Peninsula, this report expands the mutational spectrum of patients with NTRK1 mutations and provides further insights for molecular and clinical diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38120","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T05:24:33Z","timestamp":1490246673000},"page":"1009-1016","source":"Crossref","is-referenced-by-count":26,"title":["Exome sequencing identifies novel <i>NTRK1<\/i> mutations in patients with HSAN\u2010IV phenotype"],"prefix":"10.1002","volume":"173","author":[{"given":"Ruqaiah","family":"Altassan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Center Hospital Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haya Al","family":"Saud","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist 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