Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Métis Population
Stephanie E Wallace, MD and Ghayda M Mirzaa, MD.
Author Information and AffiliationsInitial Posting: June 16, 2022.
Estimated reading time: 1 minute
A founder variant is a pathogenic variant observed in high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.
The table below includes common founder variants — here defined as three or fewer variants that account for >50% of the pathogenic variants identified in a single gene in individuals of a specific ancestry — in individuals of Métis ancestry. Note: Pathogenic variants that are common worldwide due to a DNA sequence hot spot are not considered founder variants and thus are not included.
Table.
Genetic Disorders Associated with Founder Variants Common in the Métis Population
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Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group
- 1.
To date, additional pathogenic variants in this gene have not been reported in individuals from the specified region.
- 2.
Carrier frequency reported in the population residing in Northern Saskatchewan which is predominantly Métis, but also includes individuals of Cree, Dene, and French Canadian ancestry.
References
Fitterer B, Hall P, Antonishyn N, Desikan R, Gelb M, Lehotay D. Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.
Mol Genet Metab. 2014;111:382–9. [
PMC free article: PMC4346577] [
PubMed: 24461908]
Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, Lehotay DC. Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.
J Inherit Metab Dis. 2010;33 Suppl 3:S275–81. [
PubMed: 20574716]
