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

• Authors: Anna Potulska-Chromik , Dagmara Kabzińska , Marta Lipowska , Anna Kostera-Pruszczyk , Andrzej Kochański
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

hereditary; autonomic; sympathetic skin response; sensory neuropathy; mutation

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2012
• Volume: 59
• Issue: 3
• Pages: 413-415

Dates

published

2012

received

2012-05-30

revised

2012-07-23

accepted

2012-08-13

(unknown)

2012-08-21

Contributors

author

Anna Potulska-Chromik

• Department of Neurology, Medical University of Warsaw, Warszawa, Poland

author

Dagmara Kabzińska

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland

author

Marta Lipowska

• Department of Neurology, Medical University of Warsaw, Warszawa, Poland

author

Anna Kostera-Pruszczyk

• Department of Neurology, Medical University of Warsaw, Warszawa, Poland

author

Andrzej Kochański

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland

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