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Article

Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.

Clinical genetics - 1 Oct 2025

Melnik Evgeniya, Markova Tatiana, Fedotova Yana, Tatarskiy Eugene, Zabnenkova Viktoria, Kadyshev Vitaly, Kenis Vladimir, Buyanova Galina, Skoblov Mikhail, Dadali Elena

Abstract excerpt

BCARD syndrome is a rare autosomal recessive connective tissue disorder characterized by bone abnormalities, cataract, risk of arterial rupture due to vascular aneurisms or dissections, and sensorineural deafness. BCARD, linked to biallelic pathogenic variants in the PLOD3 gene, was characterized in 10 cases across six reports. Here we present an 11-year-old female patient whose phenotype, alongside the clinical...

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PMID: 40289369
DOI: 10.1111/cge.14756

Genes

PLOD3

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