Decoding marfanoid syndrome: Breakthroughs in genetic understanding

Abstract

Marfanoid Syndrome (MFS), a rare and complex genetic disorder, has long eluded a complete understanding of its intricate web of manifestations and underlying genetic factors. This review navigates the recent landscape of genetic research, offering an in-depth exploration of breakthroughs that have reshaped our comprehension of MFS. Focusing on pivotal genetic markers such as FBN1, TGFBR1, and TGFBR2, it unveils the specific mutations integral to the syndrome's clinical tapestry. Advancements in genomic technologies, notably next-generation sequencing and CRISPR-Cas9 gene editing, have propelled the field forward, accelerating the identification and analysis of genetic mutations with unprecedented precision. The review sheds light on how these technological strides have not only uncovered new genetic markers but also illuminated the intricate interplay of genes influencing the pathogenesis of MFS. Precision medicine takes center stage in the therapeutic frontiers, as understanding specific genetic mutations enables tailored interventions. This review provides a holistic perspective, encompassing genetic landscapes, technological revolutions, and emerging therapeutic paradigms, aiming to contribute to the ongoing discourse, foster a proactive approach to patient care, and inspire further research in the dynamic realm of MFS.