- Tytuł:
- A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2
- Autorzy:
-
Potulska-Chromik, Anna
Kabzińska, Dagmara
Lipowska, Marta
Kostera-Pruszczyk, Anna
Kochański, Andrzej - Powiązania:
- https://bibliotekanauki.pl/articles/1039722.pdf
- Data publikacji:
- 2012
- Wydawca:
- Polskie Towarzystwo Biochemiczne
- Tematy:
-
hereditary
autonomic
sympathetic skin response
sensory neuropathy
mutation - Opis:
- 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.
- Źródło:
-
Acta Biochimica Polonica; 2012, 59, 3; 413-415
0001-527X - Pojawia się w:
- Acta Biochimica Polonica
- Dostawca treści:
- Biblioteka Nauki
Artykuł