دورية أكاديمية
أعرض في EDS

The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.

التفاصيل البيبلوغرافية
العنوان: The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark.
المؤلفون: Leinøe E; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Brøns N; Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rasmussen AØ; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Gabrielaite M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Zaninetti C; Department of Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, Germany., Palankar R; Department of Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, Germany., Zetterberg E; Coagulation Unit, Skaane University Hospital, Malmø, Sweden., Rosthøj S; Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark., Ostrowski SR; Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
المصدر: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2021 Nov; Vol. 19 (11), pp. 2884-2892. Date of Electronic Publication: 2021 Aug 11.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE
أسماء مطبوعة: Publication: 2023- : [New York] : Elsevier
Original Publication: Oxford : Blackwell Pub.
مواضيع طبية MeSH: Bernard-Soulier Syndrome*/diagnosis , Bernard-Soulier Syndrome*/genetics , Thrombocytopenia*/diagnosis , Thrombocytopenia*/genetics, Denmark ; Homozygote ; Humans ; Pedigree ; Platelet Glycoprotein GPIb-IX Complex/genetics
مستخلص: Background: The classic Bernard-Soulier syndrome (BSS) is a rare inherited thrombocytopenia (IT) associated with severe thrombocytopenia, giant platelets, and bleeding tendency caused by homozygous or compound heterozygous variants in GP1BA, GP1BB, or GP9. Monoallelic BSS (mBSS) associated with mild asymptomatic macrothrombocytopenia caused by heterozygous variants in GP1BA or GP1BB may be a frequent cause of mild IT.
Objective: We aimed to examine the frequency of mBSS in a consecutive cohort of patients with IT and to characterize the geno- and phenotype of mBSS probands and their family members. Additionally, we set out to examine if thrombopoietin (TPO) levels differ in mBSS patients.
Patients/methods: We screened 106 patients suspected of IT using whole exome- or whole genome sequencing and performed co-segregation analyses of mBSS families. All probands and family members were phenotypically characterized. Founder mutation analysis was carried out by certifying that the probands were unrelated and the region around the variant was shared by all patients. TPO was measured by solid phase sandwich ELISA.
Results: We diagnosed 14 patients (13%) with mBSS associated with heterozygous variants in GP1BA and GP1BB. Six unrelated probands carried a heterozygous variant in GP1BA (c.58T>G, p.Cys20Gly) and shared a 2.0 Mb region on chromosome 17, confirming that it is a founder variant. No discrepancy of TPO levels between mBSS patients and wild-type family members (P > .05) were identified.
Conclusion: We conclude that the most frequent form of IT in Denmark is mBSS caused by the Copenhagen founder variant.
(© 2021 The Authors. Journal of Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis.)
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فهرسة مساهمة: Keywords: Bernard-Soulier syndrome; DNA; pedigree; sequence analysis; thrombocytopenia; thrombopoietin
المشرفين على المادة: 0 (Platelet Glycoprotein GPIb-IX Complex)
تواريخ الأحداث: Date Created: 20210801 Date Completed: 20211027 Latest Revision: 20230829
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC9292710
DOI: 10.1111/jth.15479
PMID: 34333846
قاعدة البيانات: MEDLINE
الوصف
تدمد:1538-7836
DOI:10.1111/jth.15479