Novel variants in FERMT3 and RASGRP2 - Genetic linkage in Glanzmann-like bleeding disorders
Please always quote using this URN: urn:nbn:de:bvb:20-opus-208129
- 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 functionalDefects 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.…
Author: | Georgi Manukjan, Verena WiegeringORCiD, Tobias Reindl, Gabriele Strauß, Eva Klopocki, Harald SchulzeORCiD, Oliver AndresORCiD |
---|---|
URN: | urn:nbn:de:bvb:20-opus-208129 |
Document Type: | Journal article |
Faculties: | Medizinische Fakultät / Kinderklinik und Poliklinik |
Medizinische Fakultät / Institut für Humangenetik | |
Medizinische Fakultät / Institut für Experimentelle Biomedizin | |
Language: | English |
Parent Title (English): | Pediatric Blood & Cancer |
Year of Completion: | 2020 |
Volume: | 67 |
Issue: | 2 |
Pagenumber: | e28078 |
Source: | Pediatric Blood & Cancer 2020;67(2):e28078. DOI: 10.1002/pbc.28078 |
DOI: | https://doi.org/10.1002/pbc.28078 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Tag: | bleding disorders other than hemophilia; hematology; hemostasis and thrombosis; platelet disorders |
Release Date: | 2020/09/22 |
Licence (German): | CC BY-NC: Creative-Commons-Lizenz: Namensnennung, Nicht kommerziell 4.0 International |