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The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

  • ORPHAN DISEASES (B MANGER, SECTION EDITOR)
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Abstract

Genetic defects of collagen formation (the collagenopathies) affect almost every organ system and tissue in the body. They can be grouped by clinical phenotype, which usually correlates with the tissue distribution of the affected collagen subtype. Many of these conditions present in childhood; however, milder phenotypes presenting in adulthood are increasingly recognized. Many are difficult to differentiate clinically. Precise diagnosis by means of genetic testing assists in providing prognosis information, family counseling, and individualized treatment. This review provides an overview of the current range of clinical presentations associated with collagen defects, and the molecular mechanisms important to understanding how the results of genetic testing affect medical care.

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Conflict of Interest

Rebekah Jobling, Rohan D’Souza, Naomi Baker, Irene Lara-Corrales, Roberto Mendoza-Londono, Lucie Dupuis, Ravi Savarirayan, L. Ala-Kokko, and Peter Kannu declare that they have no conflict of interest.

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Authors and Affiliations

  1. Bone Health Centre, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, 525 University Avenue, Toronto, ON, Canada

    Rebekah Jobling, Roberto Mendoza-Londono, Lucie Dupuis & Peter Kannu

  2. Division of Maternal and Fetal Medicine, Department of Obstetrics and Gynaecology, Mt. Sinai Hospital, University of Toronto, Toronto, ON, Canada

    Rohan D’Souza

  3. Murdoch Children’s Research Institute, University of Melbourne, Flemington Road, Parkville, 3052, Australia

    Naomi Baker & Ravi Savarirayan

  4. Division of Paediatric Medicine, Section of Dermatology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

    Irene Lara-Corrales

  5. Victorian Clinical Genetics Service, Flemington Road, Parkville, 3052, Australia

    Ravi Savarirayan

  6. Connective Tissue Gene Tests, Allentown, PA, USA

    L. Ala-Kokko

  7. Program in Developmental and Stem Cell Biology, University of Toronto, Toronto, ON, Canada

    Peter Kannu

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  1. Rebekah Jobling
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  9. Peter Kannu
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Correspondence to Peter Kannu.

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Jobling, R., D’Souza, R., Baker, N. et al. The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations. Curr Rheumatol Rep 16, 394 (2014). https://doi.org/10.1007/s11926-013-0394-3

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