Abstract Number: PB1434
Meeting: ISTH 2020 Congress
Background: X-linked thrombocytopenia (XLT) is a milder form of Wiskott-Aldrich syndrome (WAS) that is caused by mutations of the gene encoding WAS protein (WASp), characterized by persistent or intermittent thrombocytopenia with absent or minor infections and eczema. In clinical practice, the disease is often initially diagnosed as idiopathic thrombocytopenic purpura (ITP) before genetic diagnosis.
Aims: To add new data to the genetic diagnosis of XLT.
Methods: We describe a patient with thrombocytopenia for more than 5 months, who was found to have thrombocytopenia at 6 months after birth. The mean platelet volume (MPV) was normal. Genetic analysis of the coding sequences showed a novel WASP gene missense mutation (c.1315C>T) at exon 10. Family history showed that his mother, younger sister and grandmother all had a heterozygous genotype of the WASP gene. In addition, all the males with this gene mutation in the maternal family had different degrees of thrombocytopenia without obvious eczema and severe infection.
Results: A mutation analysis revealed a c.1315C>T mutation in exon 10 of the WAS gene, which led to a change in the 439th amino acid from arginine to tryptophan, and the mutation was inherited from the patient’s carrier mother.The mutation was suspected to be likely pathogenic by multiple protein analysis software.
Conclusions: This case report adds a new WAS gene mutation and provided a new inherited evidence for the clinical diagnosis of chronic/persistent thrombocytopenia.
To cite this abstract in AMA style:Liu H, Ma J, Wu R. A Novel Missense Mutations of the WASp Gene Cause a Familial X-linked Thrombocytopenia [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/a-novel-missense-mutations-of-the-wasp-gene-cause-a-familial-x-linked-thrombocytopenia/. Accessed January 27, 2022.
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