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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Cysteine / genetics
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DNA Mutational Analysis / methods
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Family Health*
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Female
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Frameshift Mutation / genetics*
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Genetic Linkage
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Hereditary Sensory and Autonomic Neuropathies / genetics*
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Humans
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Infant
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Infant, Newborn
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Intracellular Signaling Peptides and Proteins
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Lebanon / ethnology
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Male
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Minor Histocompatibility Antigens
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Nerve Tissue Proteins / genetics*
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Protein Serine-Threonine Kinases
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WNK Lysine-Deficient Protein Kinase 1
Substances
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Intracellular Signaling Peptides and Proteins
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Minor Histocompatibility Antigens
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Nerve Tissue Proteins
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Protein Serine-Threonine Kinases
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WNK Lysine-Deficient Protein Kinase 1
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WNK1 protein, human
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Cysteine