title: 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.
authors.affiliation: Vrije Universiteit Brussel (J.d.F.); Pediatric Neurology Unit (D.H.), Department of Pediatrics, Universitair Ziekenhuis Brussel; Centre for Medical Genetics/Research Centre Reproduction and Genetics (S.S., A.G., K.S., K.K.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel; and Department of Endocrinology and General Internal Medicine (B.V.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
authors.forename: Jeroen
authors.initials: J
authors.lastname: de Filette
authors.affiliation: Vrije Universiteit Brussel (J.d.F.); Pediatric Neurology Unit (D.H.), Department of Pediatrics, Universitair Ziekenhuis Brussel; Centre for Medical Genetics/Research Centre Reproduction and Genetics (S.S., A.G., K.S., K.K.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel; and Department of Endocrinology and General Internal Medicine (B.V.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
authors.forename: Danielle
authors.initials: D
authors.lastname: Hasaerts
authors.affiliation: Vrije Universiteit Brussel (J.d.F.); Pediatric Neurology Unit (D.H.), Department of Pediatrics, Universitair Ziekenhuis Brussel; Centre for Medical Genetics/Research Centre Reproduction and Genetics (S.S., A.G., K.S., K.K.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel; and Department of Endocrinology and General Internal Medicine (B.V.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
authors.forename: Sara
authors.initials: S
authors.lastname: Seneca
authors.affiliation: Vrije Universiteit Brussel (J.d.F.); Pediatric Neurology Unit (D.H.), Department of Pediatrics, Universitair Ziekenhuis Brussel; Centre for Medical Genetics/Research Centre Reproduction and Genetics (S.S., A.G., K.S., K.K.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel; and Department of Endocrinology and General Internal Medicine (B.V.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
authors.forename: Alexander
authors.initials: A
authors.lastname: Gheldof
authors.affiliation: Vrije Universiteit Brussel (J.d.F.); Pediatric Neurology Unit (D.H.), Department of Pediatrics, Universitair Ziekenhuis Brussel; Centre for Medical Genetics/Research Centre Reproduction and Genetics (S.S., A.G., K.S., K.K.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel; and Department of Endocrinology and General Internal Medicine (B.V.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
authors.forename: Katrien
authors.initials: K
authors.lastname: Stouffs
authors.affiliation: Vrije Universiteit Brussel (J.d.F.); Pediatric Neurology Unit (D.H.), Department of Pediatrics, Universitair Ziekenhuis Brussel; Centre for Medical Genetics/Research Centre Reproduction and Genetics (S.S., A.G., K.S., K.K.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel; and Department of Endocrinology and General Internal Medicine (B.V.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
authors.forename: Kathelijn
authors.initials: K
authors.lastname: Keymolen
authors.affiliation: Vrije Universiteit Brussel (J.d.F.); Pediatric Neurology Unit (D.H.), Department of Pediatrics, Universitair Ziekenhuis Brussel; Centre for Medical Genetics/Research Centre Reproduction and Genetics (S.S., A.G., K.S., K.K.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel; and Department of Endocrinology and General Internal Medicine (B.V.), Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Velkeniers