ArticleJournal of human genetics2025
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient.
Article in Journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature.Brain sciences · 2025Article
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6 authors.
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Abstract
Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a group of extremely rare autosomal recessive neurological disorders characterized by predominant sensory dysfunction and attendant severe complications, such as limb destruction. Our study reports a Chinese patient who met the diagnostic criteria for HSAN2 and harbored a homozygous mutation in the WNK1 gene (NM_213655.4: c.2689 G > T; p. Glu897*), Which led to nonsense-mediated mRNA decay of the transcript. Sanger sequencing revealed that the mutation segregates with disease status in the pedigree. These results expanded the spectrum of mutations in the WNK1 gene by identifying a novel mutation in a Chinese patient, providing a valuable reference for clinical diagnosis and treatment.
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