Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Newfoundland and Labrador Populations

Wallace SE, Bean LJH.

Publication Details

Estimated reading time: 4 minutes

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 Newfoundlander and/or Labradorian 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 Newfoundland and/or Labrador Population

References

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Revision History

  • 17 August 2023 (sw) Revision: added BBS1 and updated reference sequences
  • 30 April 2020 (sw) Initial posting