Prevalence of variants in the NPC1 and NPC2 genes in the Quebec population

Niemann-Pick disease type C is a rare progressive genetic disorder that primarily affects the nervous system and can be difficult to diagnose because of its highly variable symptoms. This project aims to better understand the frequency of variants in the NPC1 and NPC2 genes in the Quebec population using genomic data from CARTaGENE. The analyses identified several rare variants, including some that had not previously been reported, as well as two pathogenic variants already associated with the disease. The findings suggest an estimated prevalence of approximately 0.61 cases per 100,000 births in Quebec and provide evidence of a possible founder effect for certain variants observed in individuals of French-Canadian ancestry. This work contributes to improving the interpretation of genetic tests, refining estimates of disease prevalence, and may help support earlier diagnosis and improved access to treatment

• Genetics and genomics

• Biochemical and hematological data
• Genetic data
• Questionnaire data