A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24

• Published in: American journal of human genetics 2003-09, Vol.73 (3), p.632-637
• Main Authors: Kok, C., Kennerson, M.L., Spring, P.J., Ing, A.J., Pollard, J.D., Nicholson, G.A.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; 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; Medical sciences; Pedigree; Pneumology; Respiratory system : syndromes and miscellaneous diseases
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/377591

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 ( Z max=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.