A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder clinically characterized by distal and proximal sensory loss that is caused by the reduction or absence of peripheral sensory nerves. Recently, a novel gene called HSN2 has been found to be the cause of HSA...

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Bibliographic Details
Published in:	Annals of neurology Vol. 56; no. 4; pp. 572 - 575
Main Authors:	Rivière, Jean-Baptiste, Verlaan, Dominique J., Shekarabi, Masoud, Lafrenière, Ronald G., Bénard, Mélanie, Der Kaloustian, Vazken M., Shbaklo, Zuhayr, Rouleau, Guy A.
Format:	Journal Article
Language:	English
Published:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-10-2004 Willey-Liss
Subjects:	Adult Biological and medical sciences Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction Cysteine - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis - methods Family Health Female Frameshift Mutation - genetics Genetic Linkage Hereditary Sensory and Autonomic Neuropathies - genetics Humans Infant Infant, Newborn Intracellular Signaling Peptides and Proteins Lebanon - ethnology Male Medical sciences Minor Histocompatibility Antigens Nerve Tissue Proteins - genetics Nervous system (semeiology, syndromes) Neurology Protein-Serine-Threonine Kinases WNK Lysine-Deficient Protein Kinase 1 Nervous system diseases Mutation Neuropathy
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Summary:	Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder clinically characterized by distal and proximal sensory loss that is caused by the reduction or absence of peripheral sensory nerves. Recently, a novel gene called HSN2 has been found to be the cause of HSAN type II in five families from Newfoundland and Quebec. Screening of this gene in an HSAN type II Lebanese family showed a 1bp deletion mutation found in a homozygous state in all affected individuals. This novel mutation supports the hypothesis that HSN2 is the causative gene for HSAN type II. Ann Neurol 2004;56:572–575
Bibliography:	ArticleID:ANA20237 istex:A2DDB7742FD2D9EA9C407553EEA881AF6EFAFE55 Canadian Institutes of Health Research ark:/67375/WNG-T84TCF9T-T ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0364-5134 1531-8249
DOI:	10.1002/ana.20237