Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Faroe Islander Population
Stephanie E Wallace, MD and Lora JH Bean, PhD.
Author Information and AffiliationsInitial Posting: December 19, 2019; Last Revision: January 12, 2023.
Estimated reading time: 3 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 Faroese 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. In addition, some variants included here have been exclusively reported in individuals of Faroese ancestry but have not been proven to be founder variants.
Table.
Genetic Disorders Associated with Founder Variants Common in the Faroe Islander Population
View in own window
Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group
- 1.
Does not conform to standard HGVS nomenclature
- 2.
This percentage does not account for the possibility of rare de novo pathogenic variants occurring in this population.
- 3.
To date, additional pathogenic variants in this gene have not been reported in individuals of Faroese descent.
References
Bull LN, van Eijk MJT, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LWJ, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RHJ, Freimer NB. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
Nat Genet. 1998;18:219–24. [
PubMed: 9500542]
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Brain. 2007;130:862–74. [
PubMed: 17301081]
Gal A, Rau I, El Matri L, Kreienkamp HJ, Fehr S, Baklouti K, Chouchane I, Li Y, Rehbein M, Fuchs J, Fledelius HC, Vilhelmsen K, Schorderet DF, Munier FL, Ostergaard E, Thompson DA, Rosenberg T. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Am J Hum Genet. 2011;88:382–90. [
PMC free article: PMC3059417] [
PubMed: 21397065]
Grønborg S, Risom L, Ek J, Larsen KB, Scheie D, Petkov Y, Larsen VA, Dunø M, Joensen F, Østergaard E. A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.
Eur J Hum Genet. 2018;26:1512–20. [
PMC free article: PMC6138752] [
PubMed: 29921875]
Grønskov K, Dooley CM, Østergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Møllgård K, Stemple DL, Rosenberg T. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.
Am J Hum Genet. 2013;92:415–21. [
PMC free article: PMC3591853] [
PubMed: 23395477]
Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T. A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.
Br J Ophthalmol. 2009;93:409–13. [
PubMed: 18669544]
Jeganathan D, Chodhari R, Meeks M, Faeroe O, Smyth D, Nielsen K, Amirav I, Luder AS, Bisgaard H, Gardiner RM, Chung EMK, Mitchison HM. Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates.
J Med Genet. 2004;41:233–40. [
PMC free article: PMC1735711] [
PubMed: 14985390]
Lund AM, Joensen F, Hougaard DM, Jensen LK, Christensen E, Christensen M, Nørgaard-Petersen B, Schwartz M, Skovby F. Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.
J Inherit Metab Dis. 2007;30:341–9. [
PubMed: 17417720]
Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
Am J Hum Genet. 2012;91:672–84. [
PMC free article: PMC3484652] [
PubMed: 23022101]
Ostergaard E, Duno M, Batbayli M, Vilhelmsen K, Rosenberg T. A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.
Mol Vis. 2011;17:1485–92. [
PMC free article: PMC3110495] [
PubMed: 21677792]
Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
Brain. 2007;130:853–61. [
PubMed: 17287286]
Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, Shaiu WL, Chen YT, Schneppenheim R, Schaub J. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.
Eur J Hum Genet. 2001;9:388–91. [
PubMed: 11378828]
Schwartz M, Sørensen N, Brandt NJ, Høgdall E, Holm T. High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study.
Hum Genet. 1995;95:703–6. [
PubMed: 7789957]
