Emergence of the Natural History of Myhre Syndrome: 47 Patients Evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

    May 2024 in “ American Journal of Medical Genetics Part A ”
    Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru, T. Bernard Kinane, Peter P. Moschovis, Michael S. Cohen, Weizhen Tan, Cole Hague, Katelyn Dannheim, Lynne L. Levitsky, Evelyn Lilly, Daniel DiGiacomo, Kara M. Masse, Sarah Kadzielski, Claire Zar‐Kessler, Leo C. Ginns, Ann M. Neumeyer, Mary K. Colvin, Jack S. Elder, Christopher P. Learn, Hongmei Mou, Kathryn M. Weagle, Karen Buch, William E. Butler, Kenda Alhadid, Patricia L. Musolino, Sadia Sultana, Dhrubajyoti Bandyopadhyay, Otto Rapalino, Zachary S. Peacock, Elizabeth L. Chou, Gena Heidary, Aaron T. Dorfman, Shaine A. Morris, James D. Bergin, Jonathan H. Rayment, Lisa A. Schimmenti, Mark E. Lindsay, MGH Myhre Syndrome Study Group
    TLDR Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
    The study at Massachusetts General Hospital evaluated 47 patients with Myhre syndrome over a 7-year period, focusing on clinical features, genetic analysis, and the natural history of the condition. Key findings include a high prevalence of developmental delays, autistic-like behavior, cardiovascular abnormalities, and thickened skin. The most common genetic variant identified was SMAD4 p.Ile500Val. The study underscores the complexity of Myhre syndrome, highlighting the need for comprehensive, multidisciplinary management and further research into the molecular mechanisms of SMAD4 variants to improve diagnosis and treatment. Despite extensive data, definitive disease progression patterns were not determined, except for joint stiffness, which requires proactive management.
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