{
    "abstract": "Pathogenic variants within the gene encoding transforming growth factor \u03b2 (TGF-\u03b2) are responsible for Loeys-Dietz syndrome (LDS), a heritable thoracic aortic disease sharing clinical features with Marfan syndrome, including craniofacial and skeletal abnormalities as well as aortic root aneurysms and dissections. In contrast to Marfan syndrome patients, who rarely develop aneurysms or dissections beyond the aortic root, LDS patients frequently exhibit vessel aneurysms in locations other than the aortic root. Here, we report the case of a 61-year-old patient who initially presented with marfanoid characteristics and an aortic root aneurysm and was presumed to have Marfan syndrome two decades ago. Later, the patient developed an abdominal aorta aneurysm, necessitating endovascular repair and stent placement. That fact raised doubts regarding the initial diagnosis of Marfan syndrome, and we decided to investigate the genetic cause of the disorder.\nGenetic testing was performed using WES analysis and Sanger sequencing.\nThe genetic analysis detected a de novo heterozygous pathogenic variant c.896G>A in exon 5 of the \nOur case emphasizes the significance of precise clinical assessment and genetic verification in patients exhibiting marfanoid characteristics. Furthermore, our findings contribute to the understanding of the diverse clinical spectrum associated with this specific pathogenic variant of ",
    "authors": [
        {
            "affiliation": "University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece.\nClinical and Translational Research Endocrine Unit, School of Medicine, National Kapodistrian University of Athens, 115 28 Athens, Greece.",
            "firstname": "Galateia",
            "initials": "G",
            "lastname": "Stathori"
        },
        {
            "affiliation": "University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece.\nClinical and Translational Research Endocrine Unit, School of Medicine, National Kapodistrian University of Athens, 115 28 Athens, Greece.\nUnit of Orofacial Genetics, 1st Department of Pediatrics, School of Medicine, National Kapodistrian University of Athens, \"Aghia Sophia\" Children's Hospital, 115 27 Athens, Greece.",
            "firstname": "Eleni",
            "initials": "E",
            "lastname": "Koniari"
        },
        {
            "affiliation": "University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece.\nLaboratory of Genetics, Department of Biotechnology, School of Applied Biology and Biotechnology, Agricultural University of Athens, 118 55 Athens, Greece.",
            "firstname": "Dimitrios",
            "initials": "D",
            "lastname": "Vlachakis"
        },
        {
            "affiliation": "Clinical and Translational Research Endocrine Unit, School of Medicine, National Kapodistrian University of Athens, 115 28 Athens, Greece.",
            "firstname": "Eleni",
            "initials": "E",
            "lastname": "Papanikolaou"
        },
        {
            "affiliation": "University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece.\nClinical and Translational Research Endocrine Unit, School of Medicine, National Kapodistrian University of Athens, 115 28 Athens, Greece.",
            "firstname": "George P",
            "initials": "GP",
            "lastname": "Chrousos"
        },
        {
            "affiliation": "University Research Institute of Maternal and Child Health and Precision Medicine, School of Medicine, National Kapodistrian University of Athens, 115 27 Athens, Greece.\nUnit of Orofacial Genetics, 1st Department of Pediatrics, School of Medicine, National Kapodistrian University of Athens, \"Aghia Sophia\" Children's Hospital, 115 27 Athens, Greece.",
            "firstname": "Christos",
            "initials": "C",
            "lastname": "Yapijakis"
        }
    ],
    "conclusions": null,
    "copyrights": null,
    "doi": "10.3390/genes16040357",
    "journal": "Genes",
    "keywords": [
        "Loeys-Dietz syndrome",
        "TGF-\u03b22 mutations",
        "aortic aneurysms",
        "craniofacial anomalies",
        "marfanoid habitus",
        "skeletal anomalies",
        "transforming growth factor \u03b2",
        "vascular tortuosity"
    ],
    "methods": null,
    "publication_date": "2025-04-26",
    "pubmed_id": "40282317",
    "results": "The genetic analysis detected a de novo heterozygous pathogenic variant c.896G>A in exon 5 of the ",
    "title": "Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome.",
    "xml": "<Element 'PubmedArticle' at 0x788504193970>"
}