ArticleAmerican journal of human genetics2003
A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Guideline
- The Genetic Architecture of Chronic Cough: From Sensory Hypersensitivity to Treatable Trait.Pulmonary therapy · 2026Review
- Integrative genomics reveal genetic links of chronic cough with risk factors and brain regional volumes.ERJ open research · 2026Article
- A multi-omic atlas of human autonomic and sensory ganglia implicates cell types in peripheral neuropathies.bioRxiv : the preprint server for biology · 2025Article
- Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.Investigative ophthalmology & visual science · 2022Review
- Cough hypersensitivity and chronic cough.Nature reviews. Disease primers · 2022Review
- RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.Brain : a journal of neurology · 2020Article
- Single-Cell RNA Analysis of Type I Spiral Ganglion Neurons Reveals aFrontiers in molecular neuroscience · 2020Article
- Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.Human genetics · 2019Review
- Office-Based Anesthetic and Oral Surgical Management of a Child With Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report.Anesthesia progress · 2018Article
- Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.Journal of medical case reports · 2017Review
- Refractory chronic cough, or the need to focus on the relationship between the larynx and the esophagus.Cough (London, England) · 2013Article
- The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transporters.Physiological reviews · 2013Review
- Mechanisms of disease in hereditary sensory and autonomic neuropathies.Nature reviews. Neurology · 2012Review
- Na-coupled bicarbonate transporters of the solute carrier 4 family in the nervous system: function, localization, and relevance to neurologic function.Neuroscience · 2010Review
- A potential novel variant of hereditary sensory neuropathy in a 61-year-old man with cough-induced syncope and vertebral artery dissection.Mayo Clinic proceedings · 2010Article
- Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.Brain : a journal of neurology · 2009Article
- Hereditary sensory neuropathy type I.Orphanet journal of rare diseases · 2008Review
- Molecular genetics of hereditary sensory neuropathies.Neuromolecular medicine · 2006Review
- Idiopathic chronic cough: a real disease or a failure of diagnosis?Cough (London, England) · 2005Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary sensory neuropathy type I (HSN I) is a group of dominantly inherited degenerative disorders of peripheral nerve in which sensory features are more prominent than motor involvement. We have described a new form of HSN I that is associated with cough and gastroesophageal reflux. To map the chromosomal location of the gene causing the disorder, a 10-cM genome screen was undertaken in a large Australian family. Two-point analysis showed linkage to chromosome 3p22-p24 (Zmax=3.51 at recombination fraction (theta) 0.0 for marker D3S2338). A second family with a similar phenotype shares a different disease haplotype but segregates at the same locus. Extended haplotype analysis has refined the region to a 3.42-cM interval, flanked by markers D3S2336 and D3S1266.
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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.