With expanded carrier screening, founder populations run the risk of being overlooked

Inge B. Mathijssen*, Merel C. van Maarle, Iris I.M. Kleiss, Egbert J.W. Redeker, Leo P. ten Kate, Lidewij Henneman, Hanne Meijers-Heijboer

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether these founder mutations are covered in the (preconception) expanded carrier screening tests of five carrier screening providers. Our results show that the great majority of founder mutations are not covered in these screening panels, and these panels may thus not be appropriate for use in founder populations. It is therefore important to be aware of founder mutations in a population when offering carrier tests.

Original languageEnglish
Pages (from-to)327-333
Number of pages7
JournalJournal of Community Genetics
Issue number4
Publication statusPublished - 1 Oct 2017

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