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 Māori 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 Māori Population
References
- Hakkaart C, Ellison-Loschmann L, Day R, Sporle A, Koea J, Harawira P, Cheng S, Gray M, Whaanga T, Pearce N, Guilford P. Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori. Fam Cancer. 2019;18:83–90. [PMC free article: PMC6323075] [PubMed: 29589180]
- van Bysterveldt KA, Al Taie R, Ikink W, Oliver VF, Vincent AL. ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians. Ophthalmic Genet. 2017;38:537–43. [PubMed: 28394649]
- Vincent AL, Abeysekera N, van Bysterveldt KA, Oliver VF, Ellingford JM, Barton S, Black GC. Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation. Clin Exp Ophthalmol. 2017;45:901–10. [PubMed: 28488341]
- Wong W, Morris MC, Kara T. Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy. Pediatr Nephrol. 2013;28:2313–21. [PubMed: 23949594]
Revision History
- 12 January 2023 (sw) Initial posting
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University of Washington
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Initial Posting: January 12, 2023.
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Wallace SE. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Māori Population. 2023 Jan 12. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.