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

Cindy Kok*, M. L. Kennerson, P. J. Spring, A. J. Ing, J. D. Pollard, G. A. Nicholson

*Corresponding author for this work

Research output: Contribution to journalArticle

58 Citations (Scopus)

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 (θ) 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.

Original languageEnglish
Pages (from-to)632-637
Number of pages6
JournalAmerican Journal of Human Genetics
Volume73
Issue number3
DOIs
Publication statusPublished - 1 Sep 2003
Externally publishedYes

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