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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

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

, MD and , MD.

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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 Pueblo 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 Pueblo Population

GeneDisorderMOIDNA
Nucleotide
Change		Predicted
Protein
Change		% of Pathogenic Variants in Gene 1Carrier
Frequency		Ethnicity
(Specific Region)		Reference SequencesReferences
CFTR Cystic fibrosis ARc.3484C>Tp.Arg1162Ter70%UnknownPueblo NM_000492​.4
NP_000483​.3 		Mercier et al [1994]
c.3718-2477C>T
(3849+10kbC>T; IVS19 ds C-T+12191 1)		--20%UnknownPueblo NM_000492​.4

Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group

1.

Does not conform to standard HGVS nomenclature

References

  • Mercier B, Raguénès O, Estivill X, Morral N, Kaplan GC, McClure M, Grebe TA, Kessler D, Pignatti PF, Marigo C, Bombieri C, Audrézet MP, Verlingue C, Férec C. Complete detection of mutations in cystic fibrosis patients of Native American origin. Hum Genet. 1994;94:629–32. [PubMed: 7527370]

Revision History

  • 29 September 2022 (sw) Initial posting
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