A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family
Copyright policy )A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family
AbstractHereditary 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
- McGill University Canada
- Montreal Children's Hospital Canada
- American University of Beirut Medical Center Lebanon
- American University of Beirut Lebanon
Adult, Family Health, Male, Genetic Linkage, DNA Mutational Analysis, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Infant, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Minor Histocompatibility Antigens, WNK Lysine-Deficient Protein Kinase 1, Humans, Female, Cysteine, Hereditary Sensory and Autonomic Neuropathies, Lebanon, Frameshift Mutation
Adult, Family Health, Male, Genetic Linkage, DNA Mutational Analysis, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Infant, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Minor Histocompatibility Antigens, WNK Lysine-Deficient Protein Kinase 1, Humans, Female, Cysteine, Hereditary Sensory and Autonomic Neuropathies, Lebanon, Frameshift Mutation
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