Prevalence of Smith–Lemli–Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts
The high SLOS carrier frequency (2.83%) underscores the importance of SLOS carrier screening in Central European populations. The prevalent <i>DHCR7</i> null mutations and their potential combinations may explain the lower-than-expected prevalence of SLOS, whilst Central and Eastern European populations remain likely underrepresented in the current gnomAD database.
Authors
- Z Szücs (ORCID: https://orcid.org/0000-0003-2836-3383)
- Lenka Krůzová (ORCID: https://orcid.org/0000-0003-0301-0215)
- Jan Diblík
- Katalin Koczok (ORCID: https://orcid.org/0000-0002-5950-7813)
- M. Bittóova
- Katerina Weisova
- Eszter Kovács (ORCID: https://orcid.org/0000-0001-5582-1752)
- Balogh István
- Milan Macek
- Jan Geryk
- Miroslav Horňák
- Kateřina Veselá
- David Kubíček
Institutions
- University of Debrecen (HU)
- Charles University (CZ)
- Masaryk University (CZ)
- University Hospital in Motol (CZ)
- Institute of Applied Biotechnologies (Czechia) (CZ)
- Gennet (CZ)
- Center for Human Reproduction (US)
Publication Details
- Journal
- Genes
- Published
- 2026-01-30
- DOI
- https://doi.org/10.3390/genes17020164
- Primary Topic
- Cholesterol and Lipid Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Debreceni Egyetem