Advances in molecular genetics of Marfan syndrome and related disorders

Marfan syndrome (MFS) is a heritable multisystemic disorder with a spectrum of clinical manifestations primarily linked to variants in the Fibrillin-1 (FBN1) gene. Over the past two decades, advances in the molecular genetics of MFS have enhanced our understanding, making FBN1 molecular testing essential in the clinical management of MFS and related connective tissue disorders. However, the complexity of MFS’s phenotypic diversity, along with modifiers of disease expression and molecular pathogenesis, remains incompletely understood, especially from a multidisciplinary approach. With recent advancements in molecular biology techniques, such as next-generation sequencing, pyrosequencing, single-cell sequencing, and spatial transcriptomics, there is great promise for identifying novel genetic variants, regulatory elements, and cellular interactions that were previously beyond reach. As a result, many long-held beliefs about MFS are now being reassessed, with emerging findings promising to deepen our knowledge of its molecular underpinnings and phenotypic variability.

This research topic seeks to invite original research and comprehensive review articles that explore the molecular genetics of MFS and other hereditary connective tissue disorders across a wide array of disciplines. By uniting multidisciplinary studies, we aim to foster academic exchange, stimulate collaboration among researchers, and drive advancements in the understanding and management of hereditary connective tissue disorders. Our objective is to present innovative insights and methodologies that can improve approaches to risk stratification, disease monitoring, and the development of personalized clinical treatments for MFS and related disorders.

We welcome submissions on a wide array of topics, including but not limited to:
•Identification of novel FBN1 mutations and their correlations with clinical phenotypes.
•Investigation of modifying factors that contribute to the phenotypic diversity of MFS.
•Discovery of new genetic variants impacting the aortic, ocular, and skeletal systems in hereditary connective tissue disorders, along with insights into their molecular mechanisms.
•Multi-omics studies that provide a comprehensive understanding of MFS pathophysiology.
•Identification of novel biomarkers to predict prognosis or improve treatment options for MFS.