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Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

Genes - 30 Jan 2026

Kovács Eszter, Szűcs Zsuzsanna, Horňák Miroslav, Kubíček David, Weisová Kateřina, Veselá Kateřina, Krůzová Lenka, Geryk Jan, Diblík Jan, Bittóová Martina, Macek Milan, Balogh István, Koczok Katalin

Abstract excerpt

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol biosynthesis, caused by biallelic mutations in the DHCR7 gene. Genotype-phenotype correlations regarding DHCR7 variants could explain the variation in severity, ranging from in utero demise or severe SLOS to a mild phenotype. Clinical recognition can be challenging. This study aimed to determine the frequency of SLOS carriers in the...

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Identifiers

PMID: 41751549
DOI: 10.3390/genes17020164
PMCID: PMC12940480

Genes

DHCR7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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