A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

Anna Potulska-Chromik; Dagmara Kabzińska; Marta Lipowska; Anna Kostera-Pruszczyk; Andrzej Kochański

doi:10.18388/abp.2012_2131

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.

Anna Potulska-Chromik Department of Neurology, Medical University of Warsaw, Poland.;
Dagmara Kabzińska
Marta Lipowska
Anna Kostera-Pruszczyk
Andrzej Kochański

DOI: https://doi.org/10.18388/abp.2012_2131

Abstract

Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33. Phenotype of the patients is characterized by severe sensory loss affecting all sensory modalities. We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset hereditary sensory and autonomic neuropathy type 2, with acromutilations in upper and lower limbs, and autonomic dysfunction. To the best of our knowledge this is the first genetically proven case of hereditary sensory and autonomic neuropathy type 2 originating from East Europe.

Published

2012-08-21

Issue

Vol. 59 No. 3 (2012)

Section

Articles

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