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Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.


ABSTRACT: Hereditary sensory autonomic neuropathy (HSAN) is a rare condition, predominantly affecting the peripheral sensory nervous system, although variable motor and dysautonomic symptoms can be present. At least 7 clinical types of HSAN have been described, and different genetic mutations have been identified for each of these. HSAN IIA (OMIM #201300) is characterized by loss of pain and loss of temperature and touch sensation, with onset usually before the first decade. The mode of inheritance is autosomal recessive.(1) The causative gene, WNK1/HSN2, is located on locus 12p13.33 and is an isoform of the WNK1 (lysine deficient protein kinase 1) gene, which contains the HSN2 exon.(2,3) We describe 2 new heterozygous mutations in the WNK1/HSN2 gene in a Belgian patient with early-onset sensory polyneuropathy.

SUBMITTER: de Filette J 

PROVIDER: S-EPMC4817896 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature

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Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.

de Filette Jeroen J   Hasaerts Danielle D   Seneca Sara S   Gheldof Alexander A   Stouffs Katrien K   Keymolen Kathelijn K   Velkeniers Brigitte B  

Neurology. Genetics 20160107 1


Hereditary sensory autonomic neuropathy (HSAN) is a rare condition, predominantly affecting the peripheral sensory nervous system, although variable motor and dysautonomic symptoms can be present. At least 7 clinical types of HSAN have been described, and different genetic mutations have been identified for each of these. HSAN IIA (OMIM #201300) is characterized by loss of pain and loss of temperature and touch sensation, with onset usually before the first decade. The mode of inheritance is aut  ...[more]

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