Wang Lingyu, Zhang Jie, Lu Linna, Ren Juan, Zhang Yaofang, Zhao Lidong, Shen Wukang, Hu Xucheng, Fang Shuai, Lu Xiaomei, Wang Gang, Yang Linhua
Department of Biochemistry and Molecular Biology, Shanxi Medical University, Shanxi, China 030607.
First Hospital of Shanxi Medical University, Shanxi, China 03001.
Int J Genomics. 2024 Feb 19;2024:2277956. doi: 10.1155/2024/2277956. eCollection 2024.
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive genetic disease characterized by clinical symptoms such as eczema, thrombocytopenia with small platelets, immune deficiency, prone to autoimmune diseases, and malignant tumors. This disease is caused by mutations of the gene encoding WASprotein (WASP). The locus and type of mutations of the gene and the expression quantity of WASP were strongly correlated with the clinical manifestations of patients. We found a novel mutation in the gene (c.931 + 5G > C), which affected splicing to produce three abnormal mRNA, resulting in an abnormally truncated WASP. This mutation led to a reduction but not the elimination of the normal WASP population, resulting in causes X-linked thrombocytopenia (XLT) with mild clinical manifestations. Our findings revealed the pathogenic mechanism of this mutation.
威斯科特-奥尔德里奇综合征（WAS）是一种罕见的X连锁隐性遗传病，其临床症状包括湿疹、血小板减少伴小血小板、免疫缺陷、易患自身免疫性疾病和恶性肿瘤。这种疾病是由编码WAS蛋白（WASP）的基因突变引起的。该基因的突变位点和类型以及WASP的表达量与患者的临床表现密切相关。我们在该基因中发现了一个新的突变（c.931 + 5G > C），它影响剪接产生三种异常mRNA，导致WASP异常截短。这种突变导致正常WASP群体减少但未消除，从而引发临床表现较轻的X连锁血小板减少症（XLT）。我们的研究结果揭示了这种突变的致病机制。
