Journal of clinical lipidology · 2025
DHCR24-related desmosterolosis in the first reported Turkish patient: Expanding the genotypic and phenotypic spectrum.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Kose Canan Ceylan, Erdem Fehime, Akcan Mehmet Berkay, Yazıcı Havva, Cokyaman Turgay, Canda Ebru, Sılan Fatma
Аннотация
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: 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.
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.