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P4HB recurrent missense mutation causing Cole-Carpenter syndrome.

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|December 22, 2017
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Summary

Cole-Carpenter syndrome (CCS), a rare Osteogenesis Imperfecta (OI) disorder, is caused by P4HB gene mutations. This study identifies a P4HB variant in a patient with severe OI, highlighting its role in collagen production and ECM assembly.

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collagen processingosteogenesis imperfectap4hbrecurrent mutationskeletal dysplasia

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Area of Science:

  • Genetics
  • Biochemistry
  • Molecular Biology

Background:

  • Cole-Carpenter syndrome (CCS) is a rare Osteogenesis Imperfecta (OI) disorder.
  • CCS is associated with heterozygous missense mutations in the P4HB gene.

Observation:

  • A 3-year-old female with severe OI was found to have a P4HB missense mutation.
  • Detailed clinical, radiological, and molecular phenotyping was performed.
  • Collagen analysis and electron microscopy were conducted on patient fibroblasts.

Findings:

  • The patient's phenotype aligns with previously reported CCS cases.
  • Distinctive radiographic findings (metadiaphyseal fractures, metaphyseal sclerosis) suggest a specific P4HB genotype.
  • The P4HB variant (c.1178A>G, p.Tyr393Cys) affects its protein disulfide isomerase function.

Implications:

  • The P4HB variant disrupts extracellular matrix (ECM) organization and assembly.
  • This provides further evidence for P4HB mutations causing a specific OI-CCS subtype.
  • The study expands understanding of bisphosphonate treatment response in this rare disorder.