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Article

Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype–Phenotype Correlations

by
Lăcrămioara Ionela Butnariu
1,*,
Georgiana Russu
2,
Alina-Costina Luca
2,3,
Constantin Sandu
4,
Laura Mihaela Trandafir
3,
Ioana Vasiliu
5,
Setalia Popa
1,*,
Gabriela Ghiga
3,
Laura Bălănescu
6 and
Elena Țarcă
7
1
Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iași, Romania
2
Departament of Cardiology, Saint Mary’s Emergency Children Hospital, 700309 Iași, Romania
3
Department of Mother and Child, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iași, Romania
4
Department of Medical Abilities, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iași, Romania
5
Department of Morphofunctional Sciences II, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iași, Romania
6
Department of Pediatric Surgery and Anaesthesia and Intensive Care, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania
7
Department of Surgery II—Pediatric Surgery, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iași, Romania
*
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2024, 25(20), 11173; https://doi.org/10.3390/ijms252011173
Submission received: 15 September 2024 / Revised: 12 October 2024 / Accepted: 15 October 2024 / Published: 17 October 2024
(This article belongs to the Special Issue Pediatric Diseases: From Molecular Mechanisms to Novel Therapeutic Strategies)
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Abstract

Hereditary thoracic aorta diseases (HTADs) are a heterogeneous group of rare disorders whose major manifestation is represented by aneurysm and/or dissection frequently located at the level of the ascending thoracic aorta. The diseases have an insidious evolution and can be encountered as an isolated manifestation or can also be associated with systemic, extra-aortic manifestations (syndromic HTADs). Along with the development of molecular testing technologies, important progress has been made in deciphering the heterogeneous etiology of HTADs. The aim of this study is to identify the genetic variants associated with a group of patients who presented clinical signs suggestive of a syndromic form of HTAD. Genetic testing based on next-generation sequencing (NGS) technology was performed using a gene panel (Illumina TruSight Cardio Sequencing Panel) or whole exome sequencing (WES). In the majority of cases (8/10), de novo mutations in the FBN1 gene were detected and correlated with the Marfan syndrome phenotype. In another case, a known mutation in the TGFBR2 gene associated with Loeys–Dietz syndrome was detected. Two other pathogenic heterozygous variants (one de novo and the other a known mutation) in the SLC2A10 gene (compound heterozygous genotype) were identified in a patient diagnosed with arterial tortuosity syndrome (ATORS). We presented the genotype–phenotype correlations, especially related to the clinical evolution, highlighting the particularities of each patient in a family context. We also emphasized the importance of genetic testing and patient monitoring to avoid acute aortic events.
Keywords: hereditary thoracic aorta diseases; aortic aneurysm; aortic dissection; genetic testing; Marfan syndrome; Loeys–Dietz syndrome; arterial tortuosity syndrome hereditary thoracic aorta diseases; aortic aneurysm; aortic dissection; genetic testing; Marfan syndrome; Loeys–Dietz syndrome; arterial tortuosity syndrome

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MDPI and ACS Style

Butnariu, L.I.; Russu, G.; Luca, A.-C.; Sandu, C.; Trandafir, L.M.; Vasiliu, I.; Popa, S.; Ghiga, G.; Bălănescu, L.; Țarcă, E. Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype–Phenotype Correlations. Int. J. Mol. Sci. 2024, 25, 11173. https://doi.org/10.3390/ijms252011173

AMA Style

Butnariu LI, Russu G, Luca A-C, Sandu C, Trandafir LM, Vasiliu I, Popa S, Ghiga G, Bălănescu L, Țarcă E. Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype–Phenotype Correlations. International Journal of Molecular Sciences. 2024; 25(20):11173. https://doi.org/10.3390/ijms252011173

Chicago/Turabian Style

Butnariu, Lăcrămioara Ionela, Georgiana Russu, Alina-Costina Luca, Constantin Sandu, Laura Mihaela Trandafir, Ioana Vasiliu, Setalia Popa, Gabriela Ghiga, Laura Bălănescu, and Elena Țarcă. 2024. "Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype–Phenotype Correlations" International Journal of Molecular Sciences 25, no. 20: 11173. https://doi.org/10.3390/ijms252011173

APA Style

Butnariu, L. I., Russu, G., Luca, A.-C., Sandu, C., Trandafir, L. M., Vasiliu, I., Popa, S., Ghiga, G., Bălănescu, L., & Țarcă, E. (2024). Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype–Phenotype Correlations. International Journal of Molecular Sciences, 25(20), 11173. https://doi.org/10.3390/ijms252011173

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