학술논문

Bernard–Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion
Document Type
Original Paper
Source
International Journal of Hematology. :1-4
Subject
Bernard–Soulier syndrome
22q11.2 deletion syndrome
Macrothrombocytopenia
GPIbβ
GPIb
IX
V
Language
English
ISSN
0925-5710
1865-3774
Abstract
Bernard–Soulier syndrome (BSS) is caused by defects in GP1BA, GP1BB, or GP9 genes. Patients with 22q11.2 deletion syndrome (22q11.2DS) are obligate carriers of BSS because GP1BB resides on chromosome 22q11.2. A 15-month-old girl without bleeding symptoms had giant platelets and thrombocytopenia. Physical findings and macrothrombocytopenia suggested 22q11.2DS, which was confirmed by fluorescence in situ hybridization. Flow cytometry showed decreased GPIbα on the platelets. Gene panel testing revealed a novel variant in GP1BB, p.(Val169_Leu172del). These findings confirmed that the patient had BSS. This case suggests that any patient with 22q11.2DS and macrothrombocytopenia should be further tested for BSS.