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

作者：Potulska Chromik Anna; Kabzinska Dagmara; Lipowska Marta; Kostera Pruszczyk Anna^*; Kochanski Andrzej

来源：Acta Biochimica Polonica, 2012, 59(3): 413-415.

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

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.

• 出版日期2012