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Novel variants in FERMT3 and RASGRP2 —Genetic linkage in Glanzmann‐like bleeding disorders
Author(s) -
Manukjan Georgi,
Wiegering Verena A.,
Reindl Tobias,
Strauß Gabriele,
Klopocki Eva,
Schulze Harald,
Andres Oliver
Publication year - 2020
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.28078
Subject(s) - frameshift mutation , diathesis , medicine , bleeding diathesis , phenotype , genetics , blood platelet disorders , platelet disorder , gene , genetic linkage , platelet , bioinformatics , immunology , biology , platelet aggregation
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.