Tracing a rare smooth muscle disorder to a single mutation in a non-coding gene

A team of investigators from Massachusetts General Hospital (MGH), a founding member of Mass General Brigham (MGB) and Mass General for Children (MGfC) has identified—for the first time—the mutation in a single non-coding gene of a young patient responsible for the extremely rare disease known as multisystemic smooth muscle dysfunction syndrome (MSMDS), which causes profound cerebrovascular, gastrointestinal and urologic impairment.