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Background <p>Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, with variable incidence rates. A significant portion of cases stems from novel genetic variants, while others inherit it from affected parents.</p> Objective <p>This study focuses on identifying the genetic cause of MFS in a specific family, using whole-exome sequencing (WES).</p> Methods <p>A 15-year-old male with confirmed MFS was examined, showing symptoms of palpitations and severe mitral valve regurgitation. WES was performed, followed by confirmation with Sanger sequencing. Variants were assessed for pathogenicity using bioinformatics tools and the American College of Medical Genetics and Genomics (ACMG) guidelines.</p> Results <p>One potentially novel pathogenic variant was found in exon 14 of the <i>FBN1</i> gene: c.1676delCinsAAT, p.Ala559GlufsTer21. In silico analysis suggested a deleterious impact on protein structure and function, supporting their pathogenic classification.</p> Conclusion <p>The identification of this novel variant highlights the importance of the <i>FBN1</i> gene in MFS, especially its cardiovascular manifestations. Early intervention can improve patient outcomes, while ongoing research holds promise for further advancements in treatment for Marfan syndrome.</p>

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Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年3月7日

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  • Amirreza Sabahizadeh,
  • Amir Askarinejad,
  • Saranaz Seyed AliAkbar,
  • Mahdieh Soveizi,
  • Golnaz Houshmand,
  • Hojjat Mortezaeian,
  • Amin Elahifar,
  • Majid Maleki,
  • Samira Kalayinia

摘要

Background

Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, with variable incidence rates. A significant portion of cases stems from novel genetic variants, while others inherit it from affected parents.

Objective

This study focuses on identifying the genetic cause of MFS in a specific family, using whole-exome sequencing (WES).

Methods

A 15-year-old male with confirmed MFS was examined, showing symptoms of palpitations and severe mitral valve regurgitation. WES was performed, followed by confirmation with Sanger sequencing. Variants were assessed for pathogenicity using bioinformatics tools and the American College of Medical Genetics and Genomics (ACMG) guidelines.

Results

One potentially novel pathogenic variant was found in exon 14 of the FBN1 gene: c.1676delCinsAAT, p.Ala559GlufsTer21. In silico analysis suggested a deleterious impact on protein structure and function, supporting their pathogenic classification.

Conclusion

The identification of this novel variant highlights the importance of the FBN1 gene in MFS, especially its cardiovascular manifestations. Early intervention can improve patient outcomes, while ongoing research holds promise for further advancements in treatment for Marfan syndrome.