Mosaic Pathogenic PRKAG2 Variant and Pathologic Diagnosis of Glycogen Storage Disease in an Infant with Negative Whole Genome Sequencing

Key Points

• To investigate the role of a mosaic pathogenic PRKAG2 variant in diagnosing glycogen storage disease in an infant.
• Performed whole genome sequencing (WGS) on the infant
• Analyzed genetic variants associated with glycogen storage disease
• Evaluated clinical symptoms and diagnoses based on genetic findings
• Identified a mosaic pathogenic PRKAG2 variant in the infant
• Confirmed a diagnosis of glycogen storage disease
• Demonstrated the potential for WGS to uncover undiagnosed genetic conditions