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Article

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith-Lemli-Opitz Syndrome.

Molecular genetics & genomic medicine - 1 Jun 2026

Martinková Júlia, Vyhnálková Emílie, Schwarz Martin, Balaščaková Miroslava, Biddle Veronika, Borská Romana, Fajkusová Lenka, Ryba Lukáš, Křepelová Anna

Abstract excerpt

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a common autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene, resulting in a deficiency of the enzyme 7-dehydrocholesterol reductase. Two forms of SLOS are recognized based on the severity of associated symptoms. Type I is characterized by a milder phenotype, whereas type II is more severe and frequently results in fetal loss or early...

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Identifiers

PMID: 42237847
DOI: 10.1002/mgg3.70222
PMCID: PMC13581065

Genes

DHCR7

Variants

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