ArticleNeurology. Genetics2021
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.
Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The trial behind it
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Programmed repair of disease-causing UGA premature termination codons in mammalian brain.Nucleic acids research · 2026Article
- Voltage-gated sodium channels in the nervous system: Molecular physiology to therapeutic interventions.Neural regeneration research · 2026Article
- Oral Rehabilitation in Patient With Hereditary Sensory and Autonomic Neuropathy (HSAN) Type V: Clinical Report.Case reports in dentistry · 2025Article
- Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review.BMC neurology · 2024Review
- Dysautonomia and response to guanfacine in individuals with an SCN9A variant.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2024Article
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.Brain : a journal of neurology · 2023Article
- Living without pain. Case series of patients with hereditary sensory and autonomic neuropathies in a Canadian tertiary care centre.Paediatrics & child health · 2023Article
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.Molecular genetics & genomic medicine · 2022Article
- PRDM12 in Health and Diseases.International journal of molecular sciences · 2021Review
- Holiday heart syndrome: do not drink during this holiday! and other updates on recent autonomic research.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2021Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of well-characterized patients with a clinical diagnosis of congenital hereditary sensory and autonomic neuropathy with unrevealing conventional genetic testing.
methodsWe performed whole-exome sequencing (WES) in 13 patients with congenital impaired or absent sensation to pain and temperature with no identified molecular diagnosis from a conventional genetic panel. Patients underwent a comprehensive phenotypic assessment including autonomic function testing, and neurologic and ophthalmologic examinations.
resultsWe identified known or likely pathogenic genetic causes of congenital insensitivity to pain in all 13 patients, spanning 9 genes, the vast majority of which were inherited in an autosomal recessive manner. These included known pathogenic variants (3 patients harboring mutations in
conclusionsOur results expand the genetic landscape of congenital sensory and autonomic neuropathies. Further validation of some identified variants should confirm their pathogenicity. WES should be clinically considered to expedite diagnosis, reduce laboratory investigations, and guide enrollment in future gene therapy trials.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.