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

(2018) JOURNAL OF THORACIC DISEASE. 10(4). p.2456-2460
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Organization
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.
Keywords
Copy number variations (CNVs), genetic testing, Marfan syndrome (MFS), FBN1 gene, whole-genome sequencing (WGS), GENE

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MLA
Benke, Kálmán, Bence Ágg, Janine Meienberg, et al. “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 (2018): 2456–2460. Print.
APA
Benke, K., Ágg, B., Meienberg, J., Kopps, A. M., Fattorini, N., Stengl, R., Daradics, N., et al. (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.
Chicago author-date
Benke, Kálmán, Bence Ágg, Janine Meienberg, Anna M Kopps, Nathalie Fattorini, Roland Stengl, Noémi Daradics, et al. 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.
Chicago author-date (all authors)
Benke, Kálmán, 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, and Gábor Mátyás. 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.
Vancouver
1.
Benke K, Ágg B, Meienberg J, Kopps AM, Fattorini N, Stengl R, et al. Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era. JOURNAL OF THORACIC DISEASE. 2018;10(4):2456–60.
IEEE
[1]
K. Benke et al., “Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era,” JOURNAL OF THORACIC DISEASE, vol. 10, no. 4, pp. 2456–2460, 2018.
@article{8563953,
  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.},
  author       = {Benke, Kálmán and Ágg, Bence and Meienberg, Janine and Kopps, Anna M and Fattorini, Nathalie and Stengl, Roland and Daradics, Noémi and Pólos, Miklós and Bors, András and Radovits, Tamás and Merkely, Béla and De Backer, Julie and Szabolcs, Zoltán and Mátyás, Gábor},
  issn         = {2072-1439},
  journal      = {JOURNAL OF THORACIC DISEASE},
  keywords     = {Copy number variations (CNVs),genetic testing,Marfan syndrome (MFS),FBN1 gene,whole-genome sequencing (WGS),GENE},
  language     = {eng},
  number       = {4},
  pages        = {2456--2460},
  title        = {Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era},
  url          = {http://dx.doi.org/10.21037/jtd.2018.04.40},
  volume       = {10},
  year         = {2018},
}

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