Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing.

Abstract excerpt

Niemann-Pick disease type C (NPC) is one of the lysosomal storage disorders. It is caused by biallelic pathogenic variants in NPC1 or NPC2, which results in a defective cholesterol trafficking inside the late endosome and lysosome. There is a high clinical variability in the age of presentation and the phenotype of this disorder making the diagnosis challenging. Here, we report a patient with an infantile onset...

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• Exome Sequencing
• Infant
• Intracellular Signaling Peptides and Proteins
• Mutation
• Niemann-Pick C1 Protein