ReviewThe Journal of international medical research2018
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
Review in The Journal of international medical research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- A genome-wide association study reveals a substantial genetic basis underlying the Ebbinghaus illusion.Journal of human genetics · 2021Pooled it
- Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report.Frontiers in pediatrics · 2026Article
- Congenital Insensitivity to Pain and Anhidrosis With Orthopedic and Self-Injury Complications in a 5-Year-Old Boy: A Case Report.Clinical case reports · 2024Article
- Homozygosity for a RareInternational journal of molecular sciences · 2024Article
- A Systematic Review of Congenital Insensitivity to Pain, a Rare Disease.Journal of personalized medicine · 2024Review
- Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.Molecular genetics & genomic medicine · 2024Review
- A novelFrontiers in genetics · 2024Article
- Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.Human molecular genetics · 2023Article
- Autism spectrum disorder in a boy with congenital insensitivity to pain with anhidrosis: a case report.BMC pediatrics · 2022Article
- Guided growth in the correction of knee deformity in patients with congenital insensitivity to pain.Journal of orthopaedic surgery and research · 2021Article
- Novel Gross Deletion Mutations inFrontiers in pediatrics · 2021Article
- Investigation of a NovelFrontiers in genetics · 2021Article
- Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature.World journal of clinical cases · 2018Article
- Article
Corrections and comments
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Authors and funding
16 authors at 6 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 heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene ( NTRK1) and characterized by insensitivity to noxious stimuli, anhidrosis, and intellectual disability. We herein report the first north Han Chinese patient with CIPA who exhibited classic phenotypic features and severe intellectual disability caused by a homozygous c.851-33T>A mutation of NTRK1, resulting in aberrant splicing and an open reading frame shift. We reviewed the literature and performed in silico analysis to determine the association between mutations and intellectual disability in patients with CIPA. We found that intellectual disability was correlated with the specific Ntrk1 protein domain that a mutation jeopardized. Mutations located peripheral to the Ntrk1 protein do not influence important functional domains and tend to cause milder symptoms without intellectual disability. Mutations that involve critical amino acids in the protein are prone to cause severe symptoms, including intellectual disability.
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