A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2
| العنوان: | A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2 |
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| المؤلفون: | Andrzej Kochański, Anna Kostera-Pruszczyk, Dagmara Kabzińska, Anna Potulska-Chromik, Marta Lipowska |
| المصدر: | Europe PubMed Central |
| بيانات النشر: | Polskie Towarzystwo Biochemiczne (Polish Biochemical Society), 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, Sensory system, Protein Serine-Threonine Kinases, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Minor Histocompatibility Antigens, Stimulus modality, WNK Lysine-Deficient Protein Kinase 1, Hereditary sensory and autonomic neuropathy, medicine, HSN2, Humans, Age of Onset, Hereditary Sensory and Autonomic Neuropathies, Child, Frameshift Mutation, Mutation, business.industry, Homozygote, Intracellular Signaling Peptides and Proteins, Sensory loss, WNK1, medicine.disease, Phenotype, Pedigree, Codon, Nonsense, Female, business |
| الوصف: | 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. |
| تدمد: | 1734-154X 0001-527X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24d9ca131302c71bc8456a5b74b81edTest https://doi.org/10.18388/abp.2012_2131Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....c24d9ca131302c71bc8456a5b74b81ed |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1734154X 0001527X |
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