A novel germline mutation in <i>GP1BA</i> gene N-terminal domain in monoallelic Bernard-Soulier syndrome

Trizuljak, Jakub; Kozubík, Kateřina Staňo; Radová, Lenka; Pešová, Michaela; Pál, Karol; Réblová, Kamila; Stehlíková, Olga; Šmejkal, Petr; Zavřelová, Jiřina; Pacejka, Milan; Mayer, Jiřı́; Pospı́šilová, Šárka; Doubek, Michael

doi:10.1080/09537104.2018.1529300

Cited by 11 publications

(24 citation statements)

References 24 publications

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“…cf.ac.uk/ac), OMIM (https://www.omim.org/) or ClinVar databases (https://www.ncbi.nlm.nih.gov/clinvar/). To date, ~60 variants of GP1BA encoding GPIBα protein have been identified, and the majority of these are homozygous and contribute to symptoms of BSS (6,17). However, the symptoms of individuals in the pedigree of the current study seemed milder than the symptoms of individuals with classic homozygous BSS.…”

Section: Discussionmentioning

confidence: 57%

“…The dominant inheritance of BSS remains relatively rare as only six variants have been previously identified, including the Bolzano variant (p. Ala172Val), which is the most frequent type in Italy (12). The remaining four heterozygous mutations were described in single families (6)(7)(8)(9)(10)(11)(12).…”

Section: Discussionmentioning

confidence: 99%

“…Mutations that occur in GP1BA, GP1BB and GP9 may lead to BSS (4). The major subunit, GPIbα, holds an essential ligand-binding site for vWF within its N-terminal domain, and this features the leucine-rich repeat (LRR) (5,6). Pathogenic mutations in its GP1BA gene are classically inherited as a biallelic, autosomal recessive trait (4).…”

Section: Introductionmentioning

confidence: 99%

“…Pathogenic mutations in its GP1BA gene are classically inherited as a biallelic, autosomal recessive trait (4). A milder phenotype caused by monoallelic autosomal dominant inheritance that shares characters with BSS, including macrothrombocytopenia, has been previously reported (6)(7)(8)(9)(10)(11)(12). However, this aforementioned phenotype does not lead to severe bleeding or serious surgical or obstetric hemorrhage that is commonly seen in BSS.…”

Section: Introductionmentioning

confidence: 99%

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

Chen

et al. 2021

Exp Ther Med

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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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Section: Discussionmentioning

confidence: 57%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Chen

et al. 2021

Exp Ther Med

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“…This seems all the more interesting for this complex, because new forms of autosomal dominant partial deficiency, responsible for macrothrombocytopenia have been described. These forms are most frequently linked to sequence variations of the GP1BB (Sivapalaratnam et al, 2017) and sometimes GP1BA genes (Ali, Shetty, & Ghosh, 2017;Ghalloussi et al, 2018;Li et al, 2019;Trizuljak et al, 2018). Anomalies related to sequence variants of the GP1BB gene have been described as yielding a partial deficiency of GPIb-V-IX complex expression on the platelet surface.…”

Section: Gpib-v-ixmentioning

confidence: 99%

Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints

Fouassier

Babuty

Debord

et al. 2020

Cytometry Part B Clinical

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Inherited platelet function disorders are rare hemorrhagic diseases. The gold standard for their exploration is optical aggregometry; however, investigations by flow cytometry (FCM) are being increasingly used. In this review, the physiology of platelets is first recalled, setting the stage for the compartments of platelets that can be apprehended by specific and appropriate labeling. As this requires some preanalytical precautions and specific analytical settings, a second part focuses on these characteristic aspects, based on literature and on the authors' experience in the field, for qualitative or quantitative explorations. Membrane labeling with antibodies to CD42a or CD41, respectively, useful to assess the genetic-related defects of Glanzmann thrombocytopenia and Bernard Soulier syndrome are then described. Platelet degranulation disorders are detailed in the next section, as they can be explored, upon platelet activation, by measuring the expression of surface P-Selectin (CD62P) or CD63. Mepacrin uptake and release after activation is another test allowing to explore the function of dense granules. Finally, the flip-flop anomaly related to Scott syndrome is depicted. Tables summarizing possible FCM assays, and characteristic histograms are provided as reference for flow laboratories interested in developing platelet exploration.

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DIAPH1 mutations predict a favorable outcome for de novo MDS

Tang,

Wang,

Zhang

et al. 2024

Cancer Letters

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A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome

Cited by 11 publications

References 24 publications

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

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

Platelet immunophenotyping in health and inherited bleeding disorders, a review and practical hints

DIAPH1 mutations predict a favorable outcome for de novo MDS

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