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Article

DHCR24-related desmosterolosis in the first reported Turkish patient: Expanding the genotypic and phenotypic spectrum.

Journal of clinical lipidology - 1 Feb 2026

Kose Canan Ceylan, Erdem Fehime, Akcan Mehmet Berkay, Yazıcı Havva, Cokyaman Turgay, Canda Ebru, Sılan Fatma

Abstract excerpt

BACKGROUND: Desmosterolosis is a ultra-rare autosomal recessive disorder caused by biallelic variants in the DHCR24 gene, which encodes 3-beta-hydroxysterol delta-24-reductase-an enzyme involved in the final step of cholesterol biosynthesis. Here, we report a 3.5-year-old female with previously unreported compound heterozygous DHCR24 variants: c.1412A>G (p.Tyr471Cys), and c.275C>T (p.Thr92Met). CASE PRESENTATION:...

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Identifiers

PMID: 41500862
DOI: 10.1016/j.jacl.2025.10.078

Genes

DHCR24

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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