A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report

Ma,Jingyao; Chen,Zhenping; Li,Gang; Gu,Hao; Wu,Runhui

doi:10.3892/etm.2021.9791

A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report

Authors:
- Jingyao Ma
- Zhenping Chen
- Gang Li
- Hao Gu
- Runhui Wu
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Affiliations: Hematology Oncology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, P.R. China
Published online on: February 13, 2021 https://doi.org/10.3892/etm.2021.9791
Article Number: 360
Copyright: © Ma et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Classic Bernard‑Soulier syndrome (BSS) is a rare form of autosomal recessive disorder that is caused by mutations in the GP1BA gene that encode the GPIb‑V‑IX complex, a receptor of von Willebrand factor. BSS characterized by macrothrombocytopenia and excessive bleeding. The present study reports a single case (18‑month Chinese girl) diagnosed with BSS. The patient suffered mild thrombocytopenia, giant platelets and normal platelet aggregation. In addition, mild bleeding and thrombocytopenia were also indicated in thirteen family members, including the proband and her father. Gene sequence analysis identified a monoallelic missense mutation in GP1BA (c.97T>A), which encodes a p.C33R substitution in the N‑terminal domain of glycoprotein (GP)Ibα that may disrupt the protein structure. To the best of our knowledge, this dominant variant has not been reported previously. BSS's autosomal dominant inheritance mode is rarely identified and can be easily misdiagnosed as immune thrombocytopenia. For patients with giant platelets, thrombocytopenia and positive family history, next‑generation sequencing for inherited thrombocytopenia, especially disorders that are caused by mutations in glycoprotein Ib‑IX‑V complex, is required.

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