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

IF 2.6 3区 生物学 Q2 GENETICS & HEREDITY
Siqing Ma, Chunbo Ji, Jinlan Li, Jie Zhou, Jianying Zhu, Ping Yang
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引用次数: 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.

Abstract Image

WNK1/HSN2基因突变导致中国患者遗传性感觉和自主神经病变2型
遗传性感觉和自主神经病变2型(HSAN2)是一组极其罕见的常染色体隐性神经疾病,其特征是主要的感觉功能障碍和随之而来的严重并发症,如肢体破坏。我们的研究报告了一名符合HSAN2诊断标准的中国患者,并携带WNK1基因纯合突变(NM_213655.4: c.2689 G > T;p. Glu897*),导致无义介导的转录物mRNA衰变。Sanger测序显示,突变分离与疾病状态的家系。这些结果通过在中国患者中鉴定出一种新的突变,扩大了WNK1基因的突变谱,为临床诊断和治疗提供了有价值的参考。
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来源期刊
Journal of Human Genetics
Journal of Human Genetics 生物-遗传学
CiteScore
7.20
自引率
0.00%
发文量
101
审稿时长
4-8 weeks
期刊介绍: The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics, including molecular genetics, clinical genetics, behavioral genetics, immunogenetics, pharmacogenomics, population genetics, functional genomics, epigenetics, genetic counseling and gene therapy. Articles on the following areas are especially welcome: genetic factors of monogenic and complex disorders, genome-wide association studies, genetic epidemiology, cancer genetics, personal genomics, genotype-phenotype relationships and genome diversity.
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