Published in:
01-01-2014 | ORPHAN DISEASES (B MANGER, SECTION EDITOR)
The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations
Authors:
Rebekah Jobling, Rohan D’Souza, Naomi Baker, Irene Lara-Corrales, Roberto Mendoza-Londono, Lucie Dupuis, Ravi Savarirayan, L. Ala-Kokko, Peter Kannu
Published in:
Current Rheumatology Reports
|
Issue 1/2014
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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.