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

• Published in: Annals of Neurology
• Main Authors: Rivière, Jean‐Baptiste, Verlaan, Dominique J., Shekarabi, Masoud, Lafrenière, Ronald G., Bénard, Mélanie, Der Kaloustian, Vazken M., Shbaklo, Zuhayr, Rouleau, Guy A.
• Other Authors: Canadian Institutes of Health Research
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wiley 2004
• Subjects: Newfoundland
• Online Access: http://dx.doi.org/10.1002/ana.20237; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.20237; https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.20237

Abstract 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