biostudies-literatureUnknown2(1)de Filette JHereditary 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.Neurology. Geneticse42https://www.ebi.ac.uk/biostudies/studies/S-EPMC4817896biostudies-literaturePolyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.PMC4817896Velkeniers BSeneca Sde Filette JStouffs KHasaerts DKeymolen KGheldof AfalsePolyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.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.2016-01-01T00:00:00Z2016 Feb2020-11-19T15:37:49Z2019-03-27T03:11:00ZS-EPMC48178962706657910.1212/NXG.0000000000000042