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Tytuł:
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Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.
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Autorzy:
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Lu Z; Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, P. R. China.
Nikuze L; Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, P. R. China.
Zhong Z; Nanning Institute of Transfusion, Nanning Blood Center, Nanning, Guangxi province, P. R. China.
Li F; State Key Laboratory of Microbial Metabolism, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China.
Zhang F; Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, P. R. China.
Liang K; Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, P. R. China.
Wei M; Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, P. R. China.
Wei H; Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, P. R. China.
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Źródło:
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Platelets [Platelets] 2020; Vol. 31 (3), pp. 355-359. Date of Electronic Publication: 2019 May 14.
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Typ publikacji:
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Journal Article
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Język:
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English
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Imprint Name(s):
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Publication: London : Informa Healthcare
Original Publication: Edinburgh ; New York : Churchill Livingstone, c1990-
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MeSH Terms:
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Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Pedigree*
Integrin beta3/*genetics
Thrombasthenia/*diagnosis
Thrombasthenia/*genetics
Alleles ; Biomarkers ; Blood Platelets/metabolism ; DNA Mutational Analysis ; Genotype ; Humans ; Immunophenotyping ; Integrin beta3/chemistry ; Models, Molecular ; Phenotype ; Platelet Aggregation/genetics ; Platelet Function Tests ; Platelet Glycoprotein GPIIb-IIIa Complex/metabolism ; Protein Conformation ; Structure-Activity Relationship
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Contributed Indexing:
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Keywords: GPIIb/IIIa; Glanzmann thrombasthenia (GT); ITGB3; novel mutation
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Substance Nomenclature:
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0 (Biomarkers)
0 (ITGB3 protein, human)
0 (Integrin beta3)
0 (Platelet Glycoprotein GPIIb-IIIa Complex)
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Entry Date(s):
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Date Created: 20190516 Date Completed: 20200921 Latest Revision: 20200921
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Update Code:
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20240104
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DOI:
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10.1080/09537104.2019.1615614
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PMID:
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31088191
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Glanzmann thrombasthenia (GT) is an inherited disorder of platelet aggregation resulting from quantitative and/or qualitative abnormalities of the glycoprotein IIb/IIIa complex. We analyzed the expression of GPIIb/IIIa and the gene sequencing in two pedigrees with GT, so as to determine the type and the relationship between genotype and clinical phenotype. Platelet aggregation tests and flow cytometric studies were performed, along with gene sequencing. Both probands were classified as grade III of bleeding. Platelet aggregation was absent or defective upon stimulation with physiological stimuli like AA and ADP, but platelets agglutinated normally in response to ristocetin. MFI values were considerably reduced. Gene sequencing showed ITGB3 mutations p.Cys549Ser/p.Leu705CysfsTer4 in proband 1 and p.Cys549Ser/p.Gln254Lys in proband 2 and her sister. This study reports one novel ITGB3 mutant gene, p.Gln254Lys, of which we will explore the potential pathogenicity.
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