TY - JOUR AU - Benke, Kálmán AU - Ágg, Bence AU - Meienberg, Janine AU - Kopps, Anna M. AU - Fattorini, Nathalie AU - Stengl, Roland AU - Daradics, Noémi AU - Pólos, Miklós AU - Bors, András AU - Radovits, Tamás AU - Merkely, Béla AU - De Backer, Julie AU - Szabolcs, Zoltán AU - Mátyás, Gábor PY - 2018 TI - Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era JF - Journal of Thoracic Disease; Vol 10, No 4 (April 30, 2018): Journal of Thoracic Disease Y2 - 2018 KW - N2 - 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. UR - https://jtd.amegroups.org/article/view/20551