| Autor: |
Daniel Palanca Arias, Ariadna Ayerza Casas, Marcos Clavero Adell, Cristina Gutiérrez Alonso, Marta López Ramón, Lorenzo Jiménez Montañés, Victoria Estaben Boldova, Silvia Izquierdo-Álvarez |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Bulletin of the National Research Centre, Vol 46, Iss 1, Pp 1-6 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2522-8307 |
| DOI: |
10.1186/s42269-022-00938-2 |
| Popis: |
Abstract Background Arterial tortuosity syndrome (ATS) (OMIM #208050) is a very rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and predisposition of aneurysms formation in medium and large-caliber arteries, vascular dissection, and ischemic events. To date, approximately 100 patients have been reported carrying some of the fewer than 35 causal mutations in the SLC2A10 gene. Case presentation Here we present the clinical and molecular characterization of two new Spanish pediatric ATS patients from two unrelated families in the same city in a short period of time. Due to the knowledge of the pathology through the first case this pathology was suspected from birth in the second case, requesting the directed genetic study. Conclusion In addition to arterial tortuosity and connective tissue features, sequencing analysis revealed the homozygous and heterozygous Frameshift Deletion. Confirm diagnosis in the first few years of life is the most critical for possible life-threatening events and to offer adequate genetic counseling. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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