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

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

doi:10.1016/j.bonr.2026.101938

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

Journal article

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

Devina Afraditya Paveta, Agustini Utari, Ferdy Kurniawan Cayami, Alessandra Maugeri, Aare Märtson, Sulev Kõks, Andrii Pashenko, Serhii Khmyzov, Elisabeth Marelise W. Eekhoff, Katre Maasalu, …

Bone Reports, Vol.30, 101938

2026

DOI: https://doi.org/10.1016/j.bonr.2026.101938

PMID: 42471862

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Abstract

Bone fracture

Bruck syndrome

Congenital bone fragility

Lysyl hydroxylase 2

PLOD2 gene

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.

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Title: Extending the global landscape of Bruck syndrome: Case series of Indonesian and Ukrainian patients with PLOD2 pathogenic variants and literature review
Authors/Creators: Devina Afraditya Paveta - Diponegoro University
Agustini Utari - Diponegoro University
Ferdy Kurniawan Cayami - Diponegoro University
Alessandra Maugeri - Vrije Universiteit Amsterdam
Aare Märtson - Tartu University Hospital
Sulev Kõks - Murdoch University
Andrii Pashenko - Sytenko Institute of Spine and Joint Pathology of the National Academy of Medical Sciences of Ukraine
Serhii Khmyzov - Sytenko Institute of Spine and Joint Pathology of the National Academy of Medical Sciences of Ukraine
Elisabeth Marelise W. Eekhoff - Vrije Universiteit Amsterdam
Katre Maasalu - Tartu University Hospital
Dimitra Micha - Vrije Universiteit Amsterdam
Lidiia Zhytnik - Vrije Universiteit Amsterdam
Publication Details: Bone Reports, Vol.30, 101938
Publisher: Elsevier Inc; AMSTERDAM
Number of pages: 9
Identifiers: 991005903977207891
Murdoch Affiliation: Personalised Medicine Centre
Language: English
Resource Type: Journal article

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