A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family
Copyright © 2024 Lingyu Wang et al..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:2024 |
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| Enthalten in: |
International journal of genomics - 2024(2024) vom: 19., Seite 2277956 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Wang, Lingyu [VerfasserIn] |
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| Anmerkungen: |
Date Revised 29.02.2024 published: Electronic-eCollection Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1155/2024/2277956 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM369007484 |
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| 520 | |a Copyright © 2024 Lingyu Wang et al. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Zhang, Jie |e verfasserin |4 aut | |
| 700 | 1 | |a Lu, Linna |e verfasserin |4 aut | |
| 700 | 1 | |a Ren, Juan |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Yaofang |e verfasserin |4 aut | |
| 700 | 1 | |a Zhao, Lidong |e verfasserin |4 aut | |
| 700 | 1 | |a Shen, Wukang |e verfasserin |4 aut | |
| 700 | 1 | |a Hu, Xucheng |e verfasserin |4 aut | |
| 700 | 1 | |a Fang, Shuai |e verfasserin |4 aut | |
| 700 | 1 | |a Lu, Xiaomei |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Gang |e verfasserin |4 aut | |
| 700 | 1 | |a Yang, Linhua |e verfasserin |4 aut | |
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