A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24

Am J Hum Genet. 2003 Sep;73(3):632-7. doi: 10.1086/377591. Epub 2003 Jul 17.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Cough / complications
  • Cough / genetics*
  • Female
  • Gastroesophageal Reflux / complications
  • Gastroesophageal Reflux / genetics*
  • Hereditary Sensory and Autonomic Neuropathies / complications
  • Hereditary Sensory and Autonomic Neuropathies / genetics*
  • Humans
  • Male
  • Pedigree