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 Zuni 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 Zuni Population
References
- Kessler D, Moehlenkamp C, Kaplan G. Determination of cystic fibrosis carrier frequency for Zuni native Americans of New Mexico. Clin Genet. 1996;49:95–7. [PubMed: 8740921]
Revision History
- 11 August 2022 (sw) Initial posting
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University of Washington
Seattle, Washington
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Initial Posting: August 11, 2022.
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NLM Citation
Wallace SE. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Zuni Population. 2022 Aug 11. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.