A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.
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.
Department of Neurology, Medical University of Warsaw, Poland.
Anna
A
Potulska-Chromik
Dagmara
D
Kabzińska
Marta
M
Lipowska
Anna
A
Kostera-Pruszczyk
Andrzej
A
Kochański
D017668:Age of Onset; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D015778:Minor Histocompatibility Antigens; D010375:Pedigree; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000076204:WNK Lysine-Deficient Protein Kinase 1
D018389:Codon, Nonsense; D047908:Intracellular Signaling Peptides and Proteins; D015778:Minor Histocompatibility Antigens; D017346:Protein Serine-Threonine Kinases; D000076204:WNK Lysine-Deficient Protein Kinase 1; C498743:WNK1 protein, human