Twins With an Identical Novel Mutation in : A Case Report of Glanzmann Thrombasthenia-like Syndrome

Overview

Journal Ann Lab Med

Specialty Pathology

Date 2023 Dec 28

PMID 38151855

Authors

Jaewoong Lee

Jong-Mi Lee

Hoon Seok Kim

Jin Jung

Yonggoo Kim

Suk Young Park

Myungshin Kim

Eunhee Han

Affiliations

Soon will be listed here.

References

Ghevaert C, Salsmann A, Watkins N, Schaffner-Reckinger E, Rankin A, Garner S . A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. Blood. 2007; 111(7):3407-14. DOI: 10.1182/blood-2007-09-112615. View

Morais S, Oliveira J, Lau C, Pereira M, Goncalves M, Monteiro C . αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum. PLoS One. 2020; 15(12):e0235136. PMC: 7717987. DOI: 10.1371/journal.pone.0235136. View

Park K, Chung H, Lee K, Park I, Kim S, Kim H . Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia. Pediatr Blood Cancer. 2011; 59(2):335-8. DOI: 10.1002/pbc.24041. View

Ulmer T . Structural basis of transmembrane domain interactions in integrin signaling. Cell Adh Migr. 2010; 4(2):243-8. PMC: 2900621. DOI: 10.4161/cam.4.2.10592. View

Jayo A, Conde I, Lastres P, Martinez C, Rivera J, Vicente V . L718P mutation in the membrane-proximal cytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype. Haematologica. 2010; 95(7):1158-66. PMC: 2895041. DOI: 10.3324/haematol.2009.018572. View

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5):405-24. PMC: 4544753. DOI: 10.1038/gim.2015.30. View

Nurden A, Fiore M, Nurden P, Pillois X . Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood. 2011; 118(23):5996-6005. DOI: 10.1182/blood-2011-07-365635. View

Nurden P, Bordet J, Pillois X, Nurden A . An intracytoplasmic β3 Leu718 deletion in a patient with a novel platelet phenotype. Blood Adv. 2018; 1(8):494-499. PMC: 5728455. DOI: 10.1182/bloodadvances.2016002808. View

Chen Y, Djaffar I, Pidard D, Steiner B, Cieutat A, Caen J . Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. Proc Natl Acad Sci U S A. 1992; 89(21):10169-73. PMC: 50299. DOI: 10.1073/pnas.89.21.10169. View

10.

Gresele P, Falcinelli E, Giannini S, dAdamo P, DEustacchio A, Corazzi T . Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. Haematologica. 2009; 94(5):663-9. PMC: 2675678. DOI: 10.3324/haematol.2008.002246. View