The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22.1–q22.3 (original) (raw)

Nature Genetics volume 13, pages 101–104 (1996)Cite this article

Abstract

Hereditary sensory neuropathy type I (HSN-I, also known as hereditary sensory and autonomic neuropathy type I (HSAN-I), or hereditary sensory radicular neuropathy) is an autosomal dominant disorder that is the most common of a group of degenerative disorders of sensory neurons. HSN-I was initially recognized as a disease that produced mutilating ulceration leading to amputation of digits (Fig. 1). It was given names such as familial ulcers with mutilating lesions of the extremities, and perforating ulcers with osseous atrophy1,2. The disease involves a progressive degeneration of dorsal root ganglion and motor neurons, leading to distal sensory loss and later distal muscle wasting and weakness and variable neural deafness. Sensory deficits include loss of all modalities, particularly loss of sensation to pain and temperature. Skin injuries may lead to chronic skin ulcers, osteomyelitis, and extrusion of bone fragments, especially the metatarsals. Onset of symptoms is in the second or later decades3,4. We undertook a genome screen using linkage analysis in four Australian HSN-I kindreds. We now show that the HSN1 gene maps to an 8-centiMorgan (cM) region flanked by D9S318 and D9S176 on chromosome 9q22.1–q22.3. Multipoint linkage analysis suggests a most likely location at D9S287, within a 4.9-cM confidence interval.

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Authors and Affiliations

  1. Molecular Medicine Laboratory, University of Sydney, Clinical Sciences Building, Concord Hospital, NSW2139, Australia
    Garth A. Nicholson, Jennifer L. Dawkins, Ian P. Blair, Marina L. Kennerson, Melissa J. Gordon, Annia K. Cherryson, Janet Nash & Tessy Bananis

Authors

  1. Garth A. Nicholson
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  2. Jennifer L. Dawkins
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  3. Ian P. Blair
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  4. Marina L. Kennerson
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  5. Melissa J. Gordon
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  6. Annia K. Cherryson
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  7. Janet Nash
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  8. Tessy Bananis
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Correspondence toGarth A. Nicholson.

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Nicholson, G., Dawkins, J., Blair, I. et al. The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22.1–q22.3.Nat Genet 13, 101–104 (1996). https://doi.org/10.1038/ng0596-101

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