ArticleMolecular pain
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
Article in Molecular pain. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 24 citations in OpenAlex.
- Identification and Functional Characterization of Novel and Recurrent NTRK1 Variants in Chinese Families With Congenital Insensitivity to Pain With Anhidrosis: A Combined Clinical, Genetic, and Functional Study.European journal of neurology · 2026Article
- Novel deep intronic variants inFrontiers in genetics · 2026Article
- Ocular Manifestations in Congenital Insensitivity to Pain with Anhidrosis: A Window into a Rare Syndrome.Vision (Basel, Switzerland) · 2025Review
- A novelFrontiers in genetics · 2024Article
- Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.Frontiers in neuroscience · 2023Article
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- Ophthalmic findings of congenital insensitivity to pain with anhidrosis with a novel neurotrophic tyrosine kinase receptor type 1 gene mutation: A case report.Frontiers in medicine · 2022Article
- Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.Molecular genetics & genomic medicine · 2021Article
- Pivotal role of the gut microbiota in congenital insensitivity to pain with anhidrosis.Psychopharmacology · 2021Article
- NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.Neurogenetics · 2021Article
- Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing.Orphanet journal of rare diseases · 2021Article
- Novel Gross Deletion Mutations inFrontiers in pediatrics · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Targeting neurotrophic factors: Novel approaches to musculoskeletal pain.Pharmacology & therapeutics · 2020Review
- Heterogeneity of clinical features and mutation analysis ofJournal of pain research · 2019Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat. CIPA is known to be caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1). However, the details of NTRK1 mutations in Chinese CIPA patients remain unclear. In the present study, we recruited 36 CIPA patients from 34 unrelated families in mainland China. Blood samples from these patients and their available familial members were collected and subjected to genetic analysis. We identified 27 mutations in NTRK1 from this cohort, including 15 novel mutations. Interestingly, we discovered two forms of novel recurrent mutations: the first was a large intragenic deletion c.429-374_717 + 485del mediated by recombination between Alu elements, and the second was a deep intronic substitutions c.[851-798C > T;851-794C > G]. All probands were homozygotes or compound heterozygotes of these mutations. Current findings expand our knowledge about the mutation spectrum of NTRK1 in Chinese CIPA patients and provide more evidence for precise diagnosis of the clinically suspected patients with CIPA.
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