Magel2 Gene Mutation and Its Associated Phenotypic Features in A Five-Month-Old Female

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We present a unique case of a patient with MAGEL2 mutation, her phenotypic features, and clinical course in comparison to Prader Willi Syndrome’s phenotype and course. Dysmorphic facial features with esotropia and micrognathia, feeding difficulties with poor suck, neonatal hypotonia, ineffective thermoregulation, sleep disturbance, small hands and feet are the features that were present in our patient at birth and prompted genetic evaluation. The melanoma antigen (MAGE) gene family of ubiquitin ligase regulators contains the MAGEL2 gene located within the Prader Willi locus. Although the MAGEL2 gene is located within the Prader-Willi Syndrome (PWS) locus, it is important to differentiate its associated phenotypic features not typically shared by PWS. At early childhood, those with PWS suffer hyperphagia, with the potential development of life-threatening obesity, diabetes, and right-sided heart failure into adulthood. Given the severity of these outcomes, we aim to describe the unique phenotypic features of MAGEL2 mutation that guide clinical suspicion and early intervention for management of its complex presentation.




Medicine and Health Sciences | Pediatrics


Department of Pediatrics, Department of Pediatrics Faculty

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