A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient

Siqing Ma; Chunbo Ji; Jinlan Li; Jie Zhou; Jianying Zhu; Ping Yang

doi:10.1038/s10038-024-01310-0

A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient

J Hum Genet. 2024 Dec 23. doi: 10.1038/s10038-024-01310-0. Online ahead of print.

Authors

Siqing Ma^{1

2}, Chunbo Ji^{1

2}, Jinlan Li^{1

2}, Jie Zhou^{1

2}, Jianying Zhu^{1

2}, Ping Yang³

Affiliations

¹ Clinical Medicine School of Ningxia Medical University, Yinchuan, China.
² Department of Neurology, General Hospital of Ningxia Medical University, Yinchuan, China.
³ Department of Neurology, General Hospital of Ningxia Medical University, Yinchuan, China. yangping1999.good@163.com.

PMID: 39710744
DOI: 10.1038/s10038-024-01310-0

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.