Extending the global landscape of Bruck syndrome: Case series of Indonesian and Ukrainian patients with PLOD2 pathogenic variants and literature review.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 42471862.
- Also identified by DOI 10.1016/j.bonr.2026.101938 and PMC identifier 13380098.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Bruck syndrome type 2 (BRKS2) is a rare disorder marked by congenital joint contractures and bone fragility, caused by variants in PLOD2, which encodes lysyl hydroxylase 2 essential for collagen stability. We report the first genetically confirmed BRKS2 cases from Indonesia and Ukraine, both showing fractures, skeletal deformities, and contractures. The Indonesian patient had compound heterozygous variants, while the Ukrainian patient had a homozygous missense variant, expanding the phenotypic and geographic spectrum of the disorder.