Development of a platform for the molecular diagnosis of Zellweger syndrome in Quebec

Status Completed
Start date 2012
Location Quebec
Researcher Bouchard, Luigi
Associated institution Centre de recherche et d’innovation Saguenay-Lac-Saint-Jean and Université de Sherbrooke
Summary

This project aimed to determine the prevalence of genetic mutations causing Zellweger syndrome (ZS) in the Saguenay–Lac‑Saint‑Jean (SLSJ) region and across Quebec, with the goal of developing an effective molecular carrier screening test. ZS is a rare and severe autosomal recessive disorder, typically presenting in newborns and leading to multi‑organ dysfunction and early mortality. Due to a strong founder effect in the SLSJ region, a specific PEX6 mutation has been found in all diagnosed local cases over the past two decades. Using DNA samples from CARTaGENE participants across several regions, researchers genotyped individuals to estimate the frequency of this and other ZS‑related variants. The results confirmed a markedly higher carrier rate in the SLSJ population, supporting the introduction of a clinical diagnostic test to identify carriers and improve access to genetic services. This work also provides essential data for future consideration of a voluntary population‑based carrier screening program in the region.

Themes
  • Chronic diseases
  • Genetics and genomics
Data types
  • Questionnaire data