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Article

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Neurogenetics - 1 May 2008

Tüysüz Beyhan, Bayrakli Fatih, DiLuna Michael L, Bilguvar Kaya, Bayri Yasar, Yalcinkaya Cengiz, Bursali Aysegul, Ozdamar Elif, Korkmaz Baris, Mason Christopher E, Ozturk Ali K, Lifton Richard P, State Matthew W, Gunel Murat

Abstract excerpt

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...

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Source

Identifiers

PMID: 18322713
DOI: 10.1007/s10048-008-0121-9

Genes

NTRK1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.PMID 18322713Read ↗

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A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).Semantic proximity Read ↗

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Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.Semantic proximity Read ↗

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