Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta

May 2023 in “ Frontiers in endocrinology ”

Pei Jin Lim, Giulio Marcionelli, Pakeerathan Srikanthan, Timothée Ndarugendamwo, Jason Pinner, Marianne Rohrbach, Cecilia Giunta

MBTPS2 Osteogenesis imperfecta collagen production fatty acid metabolism fibroblasts transcriptional analyses gas chromatography-tandem mass spectrometry immunocytochemistry OI GC-MS

Studysummary The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.

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