Bernard–Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion

• Published in: International journal of hematology Vol. 120; no. 1; pp. 142 - 145
• Main Authors: Nagoshi, Rintaro, Sakamoto, Atsushi, Imai, Tsuyoshi, Uchiyama, Toru, Kaname, Tadashi, Kunishima, Shinji, Ishiguro, Akira
• Format: Journal Article
• Language: English
• Published: Singapore Springer Nature Singapore 01-07-2024; Springer Nature B.V
• Subjects: Bernard-Soulier syndrome; Bernard-Soulier Syndrome - diagnosis; Bernard-Soulier Syndrome - genetics; Blood; Blood platelets; Blood Platelets - metabolism; Blood Platelets - pathology; Cardiovascular disease; Case Report; Childrens health; Chromosome 22; Chromosome Deletion; Chromosomes, Human, Pair 22 - genetics; Congenital diseases; Deletion; DiGeorge Syndrome - complications; DiGeorge Syndrome - genetics; Education; Families & family life; Female; Flow cytometry; Fluorescence in situ hybridization; Gene flow; Genes; Heart; Hematology; Humans; Infant; Medicine; Medicine & Public Health; Oncology; Patients; Platelet Glycoprotein GPIb-IX Complex - genetics; Platelets; Pulmonary arteries; Thrombocytopenia; Thrombocytopenia - diagnosis; Thrombocytopenia - genetics; 22q11.2 deletion syndrome; GPIb; Bernard–Soulier syndrome; V; Macrothrombocytopenia; GPIbβ; IX
• ISSN: 0925-5710; 1865-3774; 1865-3774
• DOI: 10.1007/s12185-024-03768-2

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.