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

   
@article{JTD20551,
	author = {Kálmán Benke and Bence Ágg and Janine Meienberg and Anna M. Kopps and Nathalie Fattorini and Roland Stengl and Noémi Daradics and Miklós Pólos and András Bors and Tamás Radovits and Béla Merkely and Julie De Backer and Zoltán Szabolcs and Gábor Mátyás},
	title = {Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era},
	journal = {Journal of Thoracic Disease},
	volume = {10},
	number = {4},
	year = {2018},
	keywords = {},
	abstract = {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.},
	issn = {2077-6624},	url = {https://jtd.amegroups.org/article/view/20551}
}