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

Basit Öğe Kaydı
dc.contributor.authorKose, Canan Ceylan
dc.contributor.authorErdem, Fehime
dc.contributor.authorAkcan, Mehmet Berkay
dc.contributor.authorYazıcı, Havva
dc.contributor.authorCokyaman, Turgay
dc.contributor.authorCanda, Ebru Erbaş
dc.contributor.authorSilan, Fatma
dc.date.accessioned2026-02-03T11:53:42Z
dc.date.available2026-02-03T11:53:42Z
dc.date.issued2026
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractBACKGROUND 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 The patient presented with agenesis of the corpus callosum, hypotonia, developmental delay, and dysmorphic facial features. METHOD AND RESULTS Trio-clinical exome sequencing confirmed the trans configuration of the variants. Plasma desmosterol levels were elevated >50-fold (134 ng/L; reference ?2.5 ng/L), supporting the diagnosis. In silico 3D protein modeling demonstrated structural alterations associated with both variants. CONCLUSION A review of reported cases revealed consistent findings of corpus callosum agenesis, developmental delay, and ocular abnormalities. Our case contributes to the limited body of literature on DHCR24 -related desmosterolosis and expands the variant spectrum, emphasizing the importance of integrating clinical, biochemical, and computational approaches in diagnosing rare metabolic disorders. © © 2025. Published by Elsevier Inc.
dc.identifier.doi10.1016/j.jacl.2025.10.078
dc.identifier.issn1933-2874
dc.identifier.scopus2-s2.0-105026728957
dc.identifier.scopusqualityQ1
dc.identifier.urihttps://doi.org/10.1016/j.jacl.2025.10.078
dc.identifier.urihttps://hdl.handle.net/20.500.12428/34297
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherElsevier Ltd
dc.relation.ispartofJournal of Clinical Lipidology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_Scopus_20260130
dc.subject3-beta-hydroxysterol delta-24-reductase (DHCR24)
dc.subject3D Protein modeling
dc.subjectCholesterol biosynthesis
dc.subjectDesmosterol
dc.subjectSterol
dc.titleDHCR24-related desmosterolosis in the first reported Turkish patient: Expanding the genotypic and phenotypic spectrum
dc.typeArticle

Dosyalar

Koleksiyon

Scopus İndeksli Yayınlar Koleksiyonu