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 nextgeneration sequencing (NGS) era.
- Copy number variations (CNVs)
- FBN1 gene
- Genetic testing
- Marfan syndrome (MFS)
- Wholegenome sequencing (WGS)
ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine