Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report
Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia, and X-linked congenital neutropenia collectively are designated WAS-related disorders. All are attributable to pathogenic variants of the WAS protein (WASp) and present a broad spectrum of hematopoietic cellular defects that chiefly involve...
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| Format: | Article |
| Language: | English |
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Hygeia Press di Corridori Marinella
2022-12-01
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| Series: | Journal of Pediatric and Neonatal Individualized Medicine |
| Subjects: | |
| Online Access: | https://jpnim.com/index.php/jpnim/article/view/1218 |
| _version_ | 1811310330059423744 |
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| author | Darjan Kardum Borna Biljan Marijana Arambašić |
| author_facet | Darjan Kardum Borna Biljan Marijana Arambašić |
| author_sort | Darjan Kardum |
| collection | DOAJ |
| description | Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia, and X-linked congenital neutropenia collectively are designated WAS-related disorders. All are attributable to pathogenic variants of the WAS protein (WASp) and present a broad spectrum of hematopoietic cellular defects that chiefly involve platelets and lymphocytes. Pathogenic mutations in the WAS gene (located at Xp11.22-23) are implicated, affecting 12 exons.
Herein, we describe a neonate with congenital thrombocytopenia and platelet dysfunction due to a novel c.1500_1504dup (p.Asp502Gly) variant of the WAS gene. This mutation produces a frameshift, with substitution of aspartic acid for glycine at position 502 of the protein, and causes a downstream stop-loss codon. Clinically, the infant displayed severe thrombocytopenia and thrombasthenia, in the absence of other WAS-related traits (i.e., immune deficiency, eczema). Once a multigene panel analysis was complete, conditioning and then successful hematopoietic stem-cell transplantation took place at the age of 8 months. This case highlights the importance of genetic testing in instances where other diagnostics prove inconclusive. |
| first_indexed | 2024-04-13T09:57:09Z |
| format | Article |
| id | doaj.art-f05ca9294c574446ae8b1edef69c0eac |
| institution | Directory Open Access Journal |
| issn | 2281-0692 |
| language | English |
| last_indexed | 2024-04-13T09:57:09Z |
| publishDate | 2022-12-01 |
| publisher | Hygeia Press di Corridori Marinella |
| record_format | Article |
| series | Journal of Pediatric and Neonatal Individualized Medicine |
| spelling | doaj.art-f05ca9294c574446ae8b1edef69c0eac2022-12-22T02:51:21ZengHygeia Press di Corridori MarinellaJournal of Pediatric and Neonatal Individualized Medicine2281-06922022-12-01121e120105e12010510.7363/1201051237Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case reportDarjan Kardum0https://orcid.org/0000-0002-0723-3646Borna Biljan1https://orcid.org/0000-0002-7999-0304Marijana Arambašić2https://orcid.org/0000-0001-8344-9193Department of Pediatrics, University Hospital Centre Osijek, Osijek, Croatia; School of Medicine, University J. J. Strossmayer Osijek, Osijek, CroatiaDepartment of Pediatrics, University Hospital Centre Osijek, Osijek, Croatia; School of Medicine, University J. J. Strossmayer Osijek, Osijek, CroatiaDepartment of Pediatrics, University Hospital Centre Osijek, Osijek, Croatia; School of Medicine, University J. J. Strossmayer Osijek, Osijek, CroatiaWiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia, and X-linked congenital neutropenia collectively are designated WAS-related disorders. All are attributable to pathogenic variants of the WAS protein (WASp) and present a broad spectrum of hematopoietic cellular defects that chiefly involve platelets and lymphocytes. Pathogenic mutations in the WAS gene (located at Xp11.22-23) are implicated, affecting 12 exons. Herein, we describe a neonate with congenital thrombocytopenia and platelet dysfunction due to a novel c.1500_1504dup (p.Asp502Gly) variant of the WAS gene. This mutation produces a frameshift, with substitution of aspartic acid for glycine at position 502 of the protein, and causes a downstream stop-loss codon. Clinically, the infant displayed severe thrombocytopenia and thrombasthenia, in the absence of other WAS-related traits (i.e., immune deficiency, eczema). Once a multigene panel analysis was complete, conditioning and then successful hematopoietic stem-cell transplantation took place at the age of 8 months. This case highlights the importance of genetic testing in instances where other diagnostics prove inconclusive.https://jpnim.com/index.php/jpnim/article/view/1218thrombocytopeniawiskott-aldrich syndromex-linked thrombocytopeniamutationhematopoietic stem-cell transplantationinfant |
| spellingShingle | Darjan Kardum Borna Biljan Marijana Arambašić Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report Journal of Pediatric and Neonatal Individualized Medicine thrombocytopenia wiskott-aldrich syndrome x-linked thrombocytopenia mutation hematopoietic stem-cell transplantation infant |
| title | Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report |
| title_full | Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report |
| title_fullStr | Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report |
| title_full_unstemmed | Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report |
| title_short | Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report |
| title_sort | severe congenital thrombocytopenia and platelet dysfunction due to novel was gene mutation case report |
| topic | thrombocytopenia wiskott-aldrich syndrome x-linked thrombocytopenia mutation hematopoietic stem-cell transplantation infant |
| url | https://jpnim.com/index.php/jpnim/article/view/1218 |
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