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Related Experiment Video

Updated: Jun 20, 2026

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

PPIB mutations cause severe osteogenesis imperfecta.

Fleur S van Dijk¹, Isabel M Nesbitt, Eline H Zwikstra

¹Department of Clinical Genetics, VU University Medical Centre, De Boelelaan 1117, P.O. box 7057, 1007 MB Amsterdam, The Netherlands.

American Journal of Human Genetics

|September 29, 2009

Summary

This summary is machine-generated.

Mutations in the PPIB gene cause recessive osteogenesis imperfecta (OI). This study identifies PPIB mutations in two families, revealing a dysfunctional collagen-modifying complex rather than solely a lack of proline hydroxylation.

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Area of Science:

Genetics
Molecular Biology
Biochemistry

Background:

Autosomal-recessive osteogenesis imperfecta (OI) is linked to deficiencies in cartilage-associated protein (CRTAP) and prolyl 3-hydroxylase 1 (P3H1).
CRTAP, P3H1, and cyclophilin B (CyPB) form a complex essential for collagen type I modification.
This complex hydroxylates proline at position 986 (P986) in alpha1 chains, crucial for collagen structure.

Observation:

Two families with recessive OI caused by mutations in the PPIB gene (encoding CyPB) are presented.
Patients exhibited a clinical phenotype consistent with severe OI types (Sillence type II-B/III).
Reduced P986 3-prolyl hydroxylation was observed in patients, though higher than in CRTAP/LEPRE1 deficiencies.

Findings:

The study provides the first evidence of recessive OI resulting from PPIB gene mutations.
CyPB's independent presence and function as a cis-trans isomerase suggest a broader role in the P3H1/CRTAP/CyPB complex.
Recessive OI is likely caused by a dysfunctional collagen-modifying complex, not solely by the absence of single proline hydroxylation.

Implications:

Identifies PPIB mutations as a novel cause of recessive OI.
Highlights the complex interplay within the P3H1/CRTAP/CyPB complex in collagen biosynthesis.
Suggests potential new avenues for understanding and treating OI subtypes based on molecular complex function.