A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.
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.
Kok
C
C
Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, Sydney, Australia. ckok@anzac.edu.au
Kennerson
M L
ML
Spring
P J
PJ
Ing
A J
AJ
Pollard
J D
JD
Nicholson
G A
GA
D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D003371:Cough / Q000150:complications / Q000235:genetics*; D005260:Female; D005764:Gastroesophageal Reflux / Q000150:complications / Q000235:genetics*; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree