Leigh Syndrome, French-Canadian Type (LRPPRC)
The French Canadian type of Leigh syndrome is an autosomal recessive disorder caused by pathogenic variants in the LRPPRC gene. It has the highest prevalence in individuals with French-Canadian ancestry, specifically from the Saguenay-Lac St. Jean region. Patients with this condition typically develop intellectual disability, delayed psychomotor development, mild facial dysmorphism, low muscle tone, difficulty walking, and some lesions in the brain. Many patients will die as a result of episodes of metabolic or neurologic crises in infancy, with the typical lifespan not extending past the age of 2. There have been no reported genotype-phenotype correlations.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Leigh Syndrome, French-Canadian Type||LRPPRC||9, 35  (p.A354V, p.C1277*)||AR||Worldwide||< 1 in 500||>95%||0.000100190361687206|
|Leigh Syndrome, French-Canadian Type||LRPPRC||9, 35  (p.A354V, p.C1277*)||AR||French Canadian – Saguenay-Lac St. Jean||1 in 23||>95%||0.00226757369614512|