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

• Autorzy: Potulska-Chromik A. , Kabzinska D. , Lipowska M. , Kostera-Pruszczyk A. , Kochanski A.
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

novel homozygous mutation; electromyography; sensory neuropathy; sympathetic skin response; mutation; hereditary neuropathy; sensory system; patient

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2012
• Tom: 59
• Numer: 3
• Opis fizyczny: p.413-415,fig.,ref.

Twórcy

autor

Potulska-Chromik A.

• Department of Neurology, Medical University of Warsaw, Poland

autor

Kabzinska D.

autor

Lipowska M.

autor

Kostera-Pruszczyk A.

autor

Kochanski A.

Bibliografia

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