Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates
Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. We identified two large pedigrees segregating the disorder in an isolated p...
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ftpubmed:oai:pubmedcentral.nih.gov:1181970 2023-05-15T17:22:18+02:00 Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates Lafrenière, Ronald G. MacDonald, Marcia L. E. Dubé, Marie-Pierre MacFarlane, Julie O’Driscoll, Mary Brais, Bernard Meilleur, Sébastien Brinkman, Ryan R. Dadivas, Owen Pape, Terry Platon, Christèle Radomski, Chris Risler, Jenni Thompson, Jay Guerra-Escobio, Ana-Maria Davar, Gudarz Breakefield, Xandra O. Pimstone, Simon N. Green, Roger Pryse-Phillips, William Goldberg, Y. Paul Younghusband, H. Banfield Hayden, Michael R. Sherrington, Robin Rouleau, Guy A. Samuels, Mark E. 2004-05 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181970 http://www.ncbi.nlm.nih.gov/pubmed/15060842 en eng The American Society of Human Genetics http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181970 http://www.ncbi.nlm.nih.gov/pubmed/15060842 © 2004 by The American Society of Human Genetics. All rights reserved. Report Text 2004 ftpubmed 2013-08-30T12:09:47Z Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. We identified two large pedigrees segregating the disorder in an isolated population living in Newfoundland and performed a 5-cM genome scan. Linkage analysis identified a locus mapping to 12p13.33 with a maximum LOD score of 8.4. Haplotype sharing defined a candidate interval of 1.06 Mb containing all or part of seven annotated genes, sequencing of which failed to detect causative mutations. Comparative genomics revealed a conserved ORF corresponding to a novel gene in which we found three different truncating mutations among five families including patients from rural Quebec and Nova Scotia. This gene, termed “HSN2,” consists of a single exon located within intron 8 of the PRKWNK1 gene and is transcribed from the same strand. The HSN2 protein may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells. Text Newfoundland PubMed Central (PMC) |
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Report Lafrenière, Ronald G. MacDonald, Marcia L. E. Dubé, Marie-Pierre MacFarlane, Julie O’Driscoll, Mary Brais, Bernard Meilleur, Sébastien Brinkman, Ryan R. Dadivas, Owen Pape, Terry Platon, Christèle Radomski, Chris Risler, Jenni Thompson, Jay Guerra-Escobio, Ana-Maria Davar, Gudarz Breakefield, Xandra O. Pimstone, Simon N. Green, Roger Pryse-Phillips, William Goldberg, Y. Paul Younghusband, H. Banfield Hayden, Michael R. Sherrington, Robin Rouleau, Guy A. Samuels, Mark E. Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates |
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Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. We identified two large pedigrees segregating the disorder in an isolated population living in Newfoundland and performed a 5-cM genome scan. Linkage analysis identified a locus mapping to 12p13.33 with a maximum LOD score of 8.4. Haplotype sharing defined a candidate interval of 1.06 Mb containing all or part of seven annotated genes, sequencing of which failed to detect causative mutations. Comparative genomics revealed a conserved ORF corresponding to a novel gene in which we found three different truncating mutations among five families including patients from rural Quebec and Nova Scotia. This gene, termed “HSN2,” consists of a single exon located within intron 8 of the PRKWNK1 gene and is transcribed from the same strand. The HSN2 protein may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells. |
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Text |
author |
Lafrenière, Ronald G. MacDonald, Marcia L. E. Dubé, Marie-Pierre MacFarlane, Julie O’Driscoll, Mary Brais, Bernard Meilleur, Sébastien Brinkman, Ryan R. Dadivas, Owen Pape, Terry Platon, Christèle Radomski, Chris Risler, Jenni Thompson, Jay Guerra-Escobio, Ana-Maria Davar, Gudarz Breakefield, Xandra O. Pimstone, Simon N. Green, Roger Pryse-Phillips, William Goldberg, Y. Paul Younghusband, H. Banfield Hayden, Michael R. Sherrington, Robin Rouleau, Guy A. Samuels, Mark E. |
author_facet |
Lafrenière, Ronald G. MacDonald, Marcia L. E. Dubé, Marie-Pierre MacFarlane, Julie O’Driscoll, Mary Brais, Bernard Meilleur, Sébastien Brinkman, Ryan R. Dadivas, Owen Pape, Terry Platon, Christèle Radomski, Chris Risler, Jenni Thompson, Jay Guerra-Escobio, Ana-Maria Davar, Gudarz Breakefield, Xandra O. Pimstone, Simon N. Green, Roger Pryse-Phillips, William Goldberg, Y. Paul Younghusband, H. Banfield Hayden, Michael R. Sherrington, Robin Rouleau, Guy A. Samuels, Mark E. |
author_sort |
Lafrenière, Ronald G. |
title |
Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates |
title_short |
Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates |
title_full |
Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates |
title_fullStr |
Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates |
title_full_unstemmed |
Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates |
title_sort |
identification of a novel gene (hsn2) causing hereditary sensory and autonomic neuropathy type ii through the study of canadian genetic isolates |
publisher |
The American Society of Human Genetics |
publishDate |
2004 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181970 http://www.ncbi.nlm.nih.gov/pubmed/15060842 |
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Newfoundland |
genre_facet |
Newfoundland |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181970 http://www.ncbi.nlm.nih.gov/pubmed/15060842 |
op_rights |
© 2004 by The American Society of Human Genetics. All rights reserved. |
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