A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family

Autor: Lingyu Wang, Jie Zhang, Linna Lu, Juan Ren, Yaofang Zhang, Lidong Zhao, Wukang Shen, Xucheng Hu, Shuai Fang, Xiaomei Lu, Gang Wang, Linhua Yang
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: International Journal of Genomics, Vol 2024 (2024)
Druh dokumentu: article
ISSN: 2314-4378
DOI: 10.1155/2024/2277956
Popis: 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 WAS gene encoding WASprotein (WASP). The locus and type of mutations of the WAS gene and the expression quantity of WASP were strongly correlated with the clinical manifestations of patients. We found a novel mutation in the WAS 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.
Databáze: Directory of Open Access Journals
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