Extending the global landscape of Bruck syndrome: Case series of Indonesian and Ukrainian patients with PLOD2 pathogenic variants and literature review.

Authors

Devina Afraditya Paveta, Agustini Utari, Ferdy Kurniawan Cayami, Alessandra Maugeri, Aare Märtson, Sulev Kõks, Andrii Pashenko, Sergii Khmyzov, Elisabeth Marelise W Eekhoff, Katre Maasalu, Dimitra Micha, Lidiia Zhytnik

Published in

Bone reports. Volume 30. Pages 101938. Epub Jul 07, 2026.

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.

PMID:
42471862
Bibliographic data and abstract were imported from PubMed on 15 Sep 2026.

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