Related Experiment Video
Updated: May 30, 2025

Engineering Antiviral Agents via Surface Plasmon Resonance
Published on: June 14, 2022
A Novel Variant of GP9 Gene Resulting in Bernard-Soulier Syndrome: A Case Report
Badriah G Alasmari1, Sameer M Alqahtani1, Ali Alabbas2,1
1Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Abstract:
Bernard-Soulier syndrome (BSS) is a rare autosomal recessive condition that is defined by low platelet count and platelet dysfunction characterized by the absence or dysfunction of the GpIb V/IX complex on the platelet surface. It is characterized by large defective platelets and thrombocytopenia. BSS is usually presented early in life. Clinical manifestations of BSS include bleeding that affects both the skin and mucous membranes, including purpura, nasal, and gum bleeding. Also, it can present with symptoms, such as menometrorrhagia or gastrointestinal bleeding. Herein, we describe the case of a five-year-old girl with a novel variant of the GP9 gene resulting in BSS type C, with silent clinical manifestation with the exception of a pattern of easy bruising.
More Related Videos
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Pleiotropy
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Viral Mutations
X-linked Traits

