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Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected due to the lack or insufficient use of appropriate detection methods. In this report, on the example of the diagnostic odyssey of a patient with Marfan syndrome (MFS) harboring a hitherto unreported 32-kb FBN1 deletion, we highlight the need for and the feasibility of testing for CNVs (&gt;1 kb) in Mendelian disorders in the current next-generation sequencing (NGS) era.

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era