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Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 2(15), p. 150-154, 2006

DOI: 10.1038/sj.ejhg.5201744

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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Journal article published in 2006 by Andreas Zankl, Gail C. Jackson, Laureane Mittaz Crettol, Jacky Taylor, Rob Elles, Geert R. Mortier ORCID, Jurgen Spranger, Bernhard Zabel, Sheila Unger, Martine Le Merrer, Valerie Cormier-Daire ORCID, Christine M. Hall, Michael J. Wrigh, Michael J. Wright, Luisa Bonafe and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Skeletal dysplasias are difficult to diagnose for the nonexpert. In a previous study of patients with multiple epiphyseal dysplasia (MED), we identified cartilage oligomeric matrix protein (COMP) mutations in only 36% of cases and suspected that the low-mutation detection rate was partially due to misdiagnosis. We therefore instituted a clinical–radiographic review system, whereby all cases were evaluated by a panel of skeletal dysplasia experts (European Skeletal Dysplasia Network). Only those patients in whom the diagnosis of MED was confirmed by the panel were screened for mutations. Under this regimen the mutation detection rate increased to 81%. When clinical–radiological diagnostic criteria were relaxed the mutation rate dropped to 67%. We conclude that expert clinical–radiological review can significantly enhance mutation detection rates and should be part of any diagnostic mutation screening protocol for skeletal dysplasias.