Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report
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Keywords

thrombocytopenia
Wiskott-Aldrich syndrome
X-linked thrombocytopenia
mutation
hematopoietic stem-cell transplantation
infant

How to Cite

Kardum, D., Biljan, B., & Arambašić, M. (2022). Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report. Journal of Pediatric and Neonatal Individualized Medicine (JPNIM), 12(1), e120105. https://doi.org/10.7363/120105

Abstract

Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia, and X-linked congenital neutropenia collectively are designated WAS-related disorders. All are attributable to pathogenic variants of the WAS protein (WASp) and present a broad spectrum of hematopoietic cellular defects that chiefly involve platelets and lymphocytes. Pathogenic mutations in the WAS gene (located at Xp11.22-23) are implicated, affecting 12 exons.

Herein, we describe a neonate with congenital thrombocytopenia and platelet dysfunction due to a novel c.1500_1504dup (p.Asp502Gly) variant of the WAS gene. This mutation produces a frameshift, with substitution of aspartic acid for glycine at position 502 of the protein, and causes a downstream stop-loss codon. Clinically, the infant displayed severe thrombocytopenia and thrombasthenia, in the absence of other WAS-related traits (i.e., immune deficiency, eczema). Once a multigene panel analysis was complete, conditioning and then successful hematopoietic stem-cell transplantation took place at the age of 8 months. This case highlights the importance of genetic testing in instances where other diagnostics prove inconclusive.

https://doi.org/10.7363/120105
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