RASGRP2 gene variations associated with platelet dysfunction and bleeding
This manuscript reviews pathogenic variants in RASGRP2, which are the cause of a relatively new autosomal recessive and nonsyndromic inherited platelet function disorder, referred to as platelet-type bleeding disorder-18 (BDPLT18)(OMIM:615888). To date, 18 unrelated BDPLT18 pedigrees have been repor...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2019-05-01
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| Series: | Platelets |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/09537104.2019.1585528 |
| _version_ | 1797684198352355328 |
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| author | Verónica Palma-Barqueros Juan Ruiz-Pividal Natalia Bohdan Vicente Vicente Jose Maria Bastida María Lozano José Rivera |
| author_facet | Verónica Palma-Barqueros Juan Ruiz-Pividal Natalia Bohdan Vicente Vicente Jose Maria Bastida María Lozano José Rivera |
| author_sort | Verónica Palma-Barqueros |
| collection | DOAJ |
| description | This manuscript reviews pathogenic variants in RASGRP2, which are the cause of a relatively new autosomal recessive and nonsyndromic inherited platelet function disorder, referred to as platelet-type bleeding disorder-18 (BDPLT18)(OMIM:615888). To date, 18 unrelated BDPLT18 pedigrees have been reported, harboring 19 different homozygous or compound heterozygous RASGRP2 variants. Patients with this disease present with lifelong moderate to severe bleeding, with epistaxis as the most common and relevant bleeding symptom. Biologically, they exhibit normal platelet count and morphology, reduced aggregation responses to ADP, epinephrine and low-dose collagen, and impaired αIIbβ3 integrin activation (fibrinogen or PAC-1 binding) in response to most agonists except PMA. Diagnosis is confirmed by genetic analysis of RASGRP2. |
| first_indexed | 2024-03-12T00:26:59Z |
| format | Article |
| id | doaj.art-4fe5a8f850464f38b9b9298a3efd6aca |
| institution | Directory Open Access Journal |
| issn | 0953-7104 1369-1635 |
| language | English |
| last_indexed | 2024-03-12T00:26:59Z |
| publishDate | 2019-05-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Platelets |
| spelling | doaj.art-4fe5a8f850464f38b9b9298a3efd6aca2023-09-15T10:32:01ZengTaylor & Francis GroupPlatelets0953-71041369-16352019-05-0130453553910.1080/09537104.2019.15855281585528RASGRP2 gene variations associated with platelet dysfunction and bleedingVerónica Palma-Barqueros0Juan Ruiz-Pividal1Natalia Bohdan2Vicente Vicente3Jose Maria Bastida4María Lozano5José Rivera6Universidad de MurciaUniversidad de MurciaUniversidad de MurciaUniversidad de MurciaIBSAL-Hospital Universitario de SalamancaUniversidad de MurciaUniversidad de MurciaThis manuscript reviews pathogenic variants in RASGRP2, which are the cause of a relatively new autosomal recessive and nonsyndromic inherited platelet function disorder, referred to as platelet-type bleeding disorder-18 (BDPLT18)(OMIM:615888). To date, 18 unrelated BDPLT18 pedigrees have been reported, harboring 19 different homozygous or compound heterozygous RASGRP2 variants. Patients with this disease present with lifelong moderate to severe bleeding, with epistaxis as the most common and relevant bleeding symptom. Biologically, they exhibit normal platelet count and morphology, reduced aggregation responses to ADP, epinephrine and low-dose collagen, and impaired αIIbβ3 integrin activation (fibrinogen or PAC-1 binding) in response to most agonists except PMA. Diagnosis is confirmed by genetic analysis of RASGRP2.http://dx.doi.org/10.1080/09537104.2019.1585528bleedingcaldag-gefiinherited platelet dysfunctionrasgrp2 |
| spellingShingle | Verónica Palma-Barqueros Juan Ruiz-Pividal Natalia Bohdan Vicente Vicente Jose Maria Bastida María Lozano José Rivera RASGRP2 gene variations associated with platelet dysfunction and bleeding Platelets bleeding caldag-gefi inherited platelet dysfunction rasgrp2 |
| title | RASGRP2 gene variations associated with platelet dysfunction and bleeding |
| title_full | RASGRP2 gene variations associated with platelet dysfunction and bleeding |
| title_fullStr | RASGRP2 gene variations associated with platelet dysfunction and bleeding |
| title_full_unstemmed | RASGRP2 gene variations associated with platelet dysfunction and bleeding |
| title_short | RASGRP2 gene variations associated with platelet dysfunction and bleeding |
| title_sort | rasgrp2 gene variations associated with platelet dysfunction and bleeding |
| topic | bleeding caldag-gefi inherited platelet dysfunction rasgrp2 |
| url | http://dx.doi.org/10.1080/09537104.2019.1585528 |
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