Article Abstract

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

Authors: Kálmán Benke, Bence Ágg, Janine Meienberg, Anna M. Kopps, Nathalie Fattorini, Roland Stengl, Noémi Daradics, Miklós Pólos, András Bors, Tamás Radovits, Béla Merkely, Julie De Backer, Zoltán Szabolcs, Gábor Mátyás


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 (>1 kb) in Mendelian disorders in the current next-generation sequencing (NGS) era.