Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.

Defects of platelet intracellular signaling can result in severe platelet dysfunction. Several mutations in each of the linked genes FERMT3 and RASGRP2 on chromosome 11 causing a Glanzmann-like bleeding phenotype have been identified so far. We report on novel variants in two unrelated pediatric patients with severe bleeding diathesis-one with leukocyte adhesion deficiency type III due to a homozygous frameshift in FERMT3 and the other with homozygous variants in both, FERMT3 and RASGRP2. We focus on the challenging genetic and functional variant assessment and aim to accentuate the risk of obtaining misleading results due to the phenomenon of genetic linkage. © 2019 The Authors. Pediatric Blood & Cancer Published by Wiley Periodicals, Inc.

Citation

Georgi Manukjan, Verena A Wiegering, Tobias Reindl, Gabriele Strauß, Eva Klopocki, Harald Schulze, Oliver Andres. Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders. Pediatric blood & cancer. 2020 Feb;67(2):e28078

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PMID: 31724816

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