EP290: A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome

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Human imprinting disorders are caused by the disruption of the balanced monoallelic parent-of-origin specific expression of imprinted genes. Cycles of erasing, establishing, and maintaining CpG methylation at critical genomic regions in spermatogenesis and oogenesis and following fertilization are the major mechanisms for these genes to be imprinted and to regulate metabolism, growth, development, and behavior. Due to opposite imprinting defects, Prader-Willi syndrome (PWS) and typical Angelman syndrome (AS) are two related disorders with distinct neurodevelopmental phenotype.