Abstract Number: PB1495
Meeting: ISTH 2020 Congress
Theme: Platelet Disorders and von Willebrand Disease » Platelet Function Disorders, Hereditary
Background: Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are caused by mutations of the WAS gene. The genotype-phenotype association of WAS and XLT have not been fully elucidated.
Aims: To analyze the mutations of WAS gene and identify the potential correlation between genotype and phenotype.
Methods: We collected clinical data of 17 WAS/XLT patients, analyzed mutations of WAS gene at the genomic DNA by the next generation sequencing (NGS), and further determined the potential correlation between genotype and phenotype.
Results: There were 13 unique mutations identified, including 4 novel mutations, from 17 unrelated affected members. Most mutations (8/13, 62%) were missense or nonsense mutations, and were preferentially located in the amino-terminal part of the protein, exons 1 and 2, whereas two frameshift mutations (p.Arg308Lysfs*28 and p.Glu488Glafs*171) were located in the carboxyl-terminal region, exons 9 and 11 respectively. Nearly all the patients with XLT had missense mutations, while only half of the patients with missense mutations exhibited the XLT phenotype. In contrast, patients with nonsense mutations, deletions, insertions, and complex mutations developed the classic WAS phenotype.
Conclusions: WAS gene analysis can make a definite diagnosis of WAS and identify mutation carriers, beneficial for timely treatment and genetic counseling for children with WAS.
To cite this abstract in AMA style:
Zhang X, Zhang D, Yang R, Zhou F. Clinical and Molecular Characterization of Chinese Patients with Wiskott-Aldrich Syndrome [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/clinical-and-molecular-characterization-of-chinese-patients-with-wiskott-aldrich-syndrome/. Accessed March 21, 2024.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/clinical-and-molecular-characterization-of-chinese-patients-with-wiskott-aldrich-syndrome/