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


Benke, Kálmán; Ágg, Bence; Meienberg, Janine; Kopps, Anna M; Fattorini, Nathalie; Stengl, Roland; Daradics, Noémi; Pólos, Miklós; Bors, András; Radovits, Tamás; Merkely, Béla; De Backer, Julie; Szabolcs, Zoltán; Mátyás, Gábor (2018). Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era. Journal of Thoracic Disease, 10(4):2456-2460.

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.

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Center for Integrative Human Physiology
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Pulmonary and Respiratory Medicine
Language:English
Date:April 2018
Deposited On:18 Feb 2020 09:42
Last Modified:29 Jul 2020 14:37
Publisher:AME Publishing Company
ISSN:2072-1439
OA Status:Green
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.21037/jtd.2018.04.40
PubMed ID:29850152

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