{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T20:45:12Z","timestamp":1740170712947,"version":"3.37.3"},"reference-count":24,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T00:00:00Z","timestamp":1708300800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Shanxi Provincial Basic Research Program","award":["20210302123295","8170011339","81970172"],"award-info":[{"award-number":["20210302123295","8170011339","81970172"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["20210302123295","8170011339","81970172"],"award-info":[{"award-number":["20210302123295","8170011339","81970172"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["International Journal of Genomics"],"published-print":{"date-parts":[[2024,2,19]]},"abstract":"<jats:p>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 (<jats:inline-formula><a:math xmlns:a=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><a:mtext>c<\/a:mtext><a:mo>.<\/a:mo><a:mn>931<\/a:mn><a:mo>+<\/a:mo><a:mn>5<\/a:mn><a:mtext>G<\/a:mtext><a:mo>&gt;<\/a:mo><a:mtext>C<\/a:mtext><\/a:math><\/jats:inline-formula>), 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.<\/jats:p>","DOI":"10.1155\/2024\/2277956","type":"journal-article","created":{"date-parts":[[2024,2,20]],"date-time":"2024-02-20T00:04:16Z","timestamp":1708387456000},"page":"1-8","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4534-6289","authenticated-orcid":true,"given":"Lingyu","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Shanxi Medical University, Shanxi, 030607, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Zhang","sequence":"additional","affiliation":[{"name":"First Hospital of Shanxi Medical University, Shanxi, 03001, 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