Intractable Rare Dis Res. 2024;13(1):69-72. (DOI: 10.5582/irdr.2023.01102)

Wiskott-Aldrich syndrome: A new synonym mutation in the WAS gene

Sun YX, Song XM, Pan H, Li XX, Sun LR, Song L, Ma F, Hao JN

Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive primary immunodeficiency disorder. Mutations in the WAS gene are considered to be the primary cause of WAS. In this work, we report a boy who presented with intracranial hemorrhage (ICH) as an initial symptom and detects a novel pathogenic synonymous mutation in his WAS gene. His mother was a carrier of the mutant gene. The mutation, located at position c.273 (c.273 G>A) in exon 2, is a synonym mutation and predicted to affect protein expression by disrupting gene splicing. This study summarizes the diagnosis and treatment process of the patient and expands the genetic spectrum of WAS.

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