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

doi:10.1086/377591

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 journal › Article › peer-review

64 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 (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.

Original language	English
Pages (from-to)	632-637
Number of pages	6
Journal	American Journal of Human Genetics
Volume	73
Issue number	3
DOIs	https://doi.org/10.1086/377591
Publication status	Published - 1 Sept 2003
Externally published	Yes

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

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.",

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AU - Ing, A. J.

AU - Pollard, J. D.

AU - Nicholson, G. A.

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AB - 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.

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

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