Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Inuit Population

Wallace SE, Bean LJH.

Publication Details

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A founder variant is a pathogenic variant observed at 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 Inuit 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.

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Table.

Genetic Disorders Associated with Founder Variants Common in the Inuit Population

References

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Revision History

  • 24 August 2023 (sw) Revision: updated reference sequences
  • 24 November 2021 (sw) Revision: added Fanconi anemia
  • 27 December 2018 (sw) Initial posting