Ma Siqing, Ji Chunbo, Li Jinlan, Zhou Jie, Zhu Jianying, Yang Ping
Clinical Medicine School of Ningxia Medical University, Yinchuan, China.
Department of Neurology, General Hospital of Ningxia Medical University, Yinchuan, China.
J Hum Genet. 2025 Apr;70(4):223-226. doi: 10.1038/s10038-024-01310-0. Epub 2024 Dec 23.
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.
遗传性感觉和自主神经病变2型（HSAN2）是一组极为罕见的常染色体隐性神经障碍疾病，其特征为主要的感觉功能障碍及随之而来的严重并发症，如肢体损毁。我们的研究报告了一名符合HSAN2诊断标准的中国患者，该患者在WNK1基因（NM_213655.4: c.2689 G > T; p. Glu897*）中存在纯合突变，这导致了该转录本的无义介导的mRNA降解。桑格测序显示，该突变在家族谱系中与疾病状态共分离。这些结果通过在中国患者中鉴定出一个新的突变，扩展了WNK1基因的突变谱，为临床诊断和治疗提供了有价值的参考。
