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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Acknowledgements
The authors thank the family members for participating in this study.
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Ningxia Key Research and Development Program for Special Projects 2021BEG03032.
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Siqing Ma contributed in the conception and design of the study, literature search, experimental studies, and drafting the manuscript. Chunbo Ji contributed in clinical data acquisition and review. Jinlan Li contributed in clinical data acquisition and review. Jie Zhou contributed in clinical data acquisition and review. Jianying Zhu contributed in clinical data acquisition and review. Ping Yang contributed in the conception and design of the study, literature search, experimental studies, manuscript editing, and review. All authors read and approved the final manuscript.
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This study was conducted in accordance with the Declaration of Helsinki guidelines and was approved by the institutional review board of the General Hospital of Ningxia Medical University. Participants gave written consent to participate after being informed of the nature of the research.
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Ma, S., Ji, C., Li, J. et al. A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient. J Hum Genet 70, 223–226 (2025). https://doi.org/10.1038/s10038-024-01310-0
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DOI: https://doi.org/10.1038/s10038-024-01310-0
