Research Review of Myhre Syndrome

作者：Margaret Brand, Ryan Monsberger, Robert J. Hopkin, Angela E. Lin · 发表于：American Journal of Medical Genetics Part C Seminars in Medical Genetics · 年份：2025 · DOI：10.1002/ajmg.c.32145 · 被引用次数：6 · 研究领域：Tracheal and airway disorders、Esophageal and GI Pathology、Connective tissue disorders research

This research review of Myhre syndrome is a summary of published articles which provide a valuable resource for readers, researchers, and future authors. It traces the evolution of the Laryngotracheal-Arthropathy-Prognathism-Short Stature (LAPS) syndrome to the current eponym of Myhre syndrome. These allelic disorders are caused by pathogenic variants in SMAD4. After the initial report over 40 years ago, the steady publication of case reports and small series was accelerated following the discovery of the pathogenic variants in SMAD4. The articles in this review include numerous case reports and small series, reports about basic science, the discovery of the causative gene, the emergence of the natural history in larger studies, and articles about specific features, especially the cardiovascular system and airways. We hope this analysis provides a foundation for future research that may extend symptom-based treatment to genetic-based therapy.