a novel mutation of <i>magel2</i> in a patient with schaaf-yang syndrome and hypopituitarism

Introduction: schaaf-yang syndrome (sys) is caused by truncating point mutations of the paternal allele of magel2, an imprinted gene located in the critical region of prader-willi syndrome (pws). these patients present a phenotype with neurodevelopmental delay, hypotonia, joint contractures, and a particularly high prevalence of autism (up to 75% in affected individuals). the loss of function of magel2 is suggested to contribute to endocrine hypothalamic dysfunction in individuals with pws. case presentation: the current study presented the case of a patient with sys and a novel de novo truncating mutation of magel2 and phenotypic characteristics typical of this prader-willi-like syndrome and also including partial hypopituitarism, hypothy- roidism, growth hormone deficiency, and hyperprolactinemia. conclusions: the clinical and molecular similarities between sys and pws suggested the need for a thorough endocrinological follow-up to improve the prognosis and long-term quality of life for patients with sys.