{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["2(1)"],"submitter":["de Filette J"],"pubmed_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."],"journal":["Neurology. Genetics"],"pagination":["e42"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4817896"],"repository":["biostudies-literature"],"pubmed_title":["Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene."],"pmcid":["PMC4817896"],"pubmed_authors":["Velkeniers B","Seneca S","de Filette J","Stouffs K","Hasaerts D","Keymolen K","Gheldof A"],"additional_accession":[]},"is_claimable":false,"name":"Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.","description":"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.","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Feb","modification":"2020-11-19T15:37:49Z","creation":"2019-03-27T03:11:00Z"},"accession":"S-EPMC4817896","cross_references":{"pubmed":["27066579"],"doi":["10.1212/NXG.0000000000000042"]}}