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Article

Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case Series.

Genes - 5 May 2026

Merkuryeva Elena S, Melnik Evgeniya A, Kenis Vladimir M, Trofimova Svetlana I, Agranovich Olga E, Buklemishev Yuri V, Rustamov Khushnud K, Chistol Denis V, Nagornova Tatiana S, Zabnenkova Viktoriia V, Markova Tatiana V

Abstract excerpt

Background/Objectives: Bruck syndrome type 2 (BS2) is an ultra-rare autosomal recessive disorder within the osteogenesis imperfecta (OI) spectrum caused by biallelic pathogenic variants in PLOD2, which encodes lysyl hydroxylase 2 (LH2), an enzyme essential for bone-specific collagen cross-linking. Marked clinical heterogeneity complicates diagnosis, particularly in patients with atypical or incomplete...

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Identifiers

PMID: 42195013
DOI: 10.3390/genes17050556
PMCID: PMC13206548

Genes

PLOD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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