• Gene:VPS16(NM_022575.3)
• Protein: Component of HOPS/CORVET tethering complexes
• Variant: Homozygous or compound heterozygous variants
• Mechanism:Destabilization of VPS16 protein function, impaired recruitment of VPS33A, disruption of endolysosomal trafficking and autophagy
• Diagnostic testing: Whole exome sequencing; confirm by Sanger sequencing; segregation analysis as needed
• Pathophysiology:Defective autophagosome-lysosome fusion → storage disease phenotype
VPS16 autosomal recessive