Bernard-Soulier syndrome case caused by novel compound heterozygous variants in the GP1BA gene: Case report

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-01-08 DOI:10.1016/j.genrep.2025.102133

Chenxia Xu , Chunhua Lai , Sheng Zhang , Chouju Zhuang , Kunyi Deng , Shengping Xiao

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引用次数: 0

Abstract

Bernard-Soulier Syndrome (BSS) is a rare bleeding disorder characterized by macrothrombocytopenia and mucocutaneous bleeding, arising from defects in the glycoprotein Ib-IX-V complex. While several variations in the GP1BA gene are known to cause BSS, compound heterozygous mutations remain uncommon. This study used Whole Exome Sequencing (WES) and targeted Sanger sequencing to investigate the genetic basis of BSS in a pediatric patient with unexplained bleeding symptoms, supported by flow cytometry, platelet aggregation, and blood smear analyses. We identified novel compound heterozygous variations, c.656A>T (p.H219L) and c.987G>A (p.W329X), which significantly affected the expression and function of the glycoprotein complex, consistent with typical BSS features. These findings expand our understanding of the genetic diversity in BSS and emphasize the importance of comprehensive genetic testing in cases of unexplained bleeding disorders, underscoring the value of advanced diagnostics for effective management of rare hematological conditions.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.