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Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection

  • Authors:
    • Qian Han
    • Wenwen Zhang
    • Changjian Liu
    • Min Zhou
    • Feng Ran
    • Long Yi
    • Xitai Sun
    • Zhao Liu
  • View Affiliations / Copyright

    Affiliations: Department of Vascular Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu 210008, P.R. China, Center for Translational Medicine, Nanjing University Medical School, Nanjing, Jiangsu 210093, P.R. China, Department of General Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, Jiangsu 210008, P.R. China
    Copyright: © Han et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 6620-6625
    |
    Published online on: August 31, 2017
       https://doi.org/10.3892/mmr.2017.7410
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Abstract

The etiology of thoracic aortic aneurysm and dissection (TAAD) is complex and heterogeneous. Emerging evidence has demonstrated that genetic causes may be a consideration in early‑onset TAAD. Owing to overlapping clinical phenotypes and the genetic heterogeneity of TAAD, it is challenging for clinicians to make a molecular diagnosis of TAAD, particularly in those who present with non‑specific syndromic features. In order to identify the causative mutation in two young patients with acute type B aortic dissection without syndromic features, whole exome sequencing (WES) was performed in the present study. A missense mutation (c.G6953A:p.C2318Y) and a nonsense mutation (c.C4786T:p.R1596X) were identified in the fibrillin 1 gene in patients T287 and T267, respectively. The present study emphasized the necessity of genetic testing for young patients with type B aortic dissection. WES is a timely, robust and inexpensive technique for molecular diagnosis, particularly for TAAD caused by numerous genes. Genetic diagnosis of Marfan syndrome could aid in periodic surveillance, prophylactic surgical measures, and genetic counseling.
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Copy and paste a formatted citation
Spandidos Publications style
Han Q, Zhang W, Liu C, Zhou M, Ran F, Yi L, Sun X and Liu Z: Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection. Mol Med Rep 16: 6620-6625, 2017.
APA
Han, Q., Zhang, W., Liu, C., Zhou, M., Ran, F., Yi, L. ... Liu, Z. (2017). Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection. Molecular Medicine Reports, 16, 6620-6625. https://doi.org/10.3892/mmr.2017.7410
MLA
Han, Q., Zhang, W., Liu, C., Zhou, M., Ran, F., Yi, L., Sun, X., Liu, Z."Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection". Molecular Medicine Reports 16.5 (2017): 6620-6625.
Chicago
Han, Q., Zhang, W., Liu, C., Zhou, M., Ran, F., Yi, L., Sun, X., Liu, Z."Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection". Molecular Medicine Reports 16, no. 5 (2017): 6620-6625. https://doi.org/10.3892/mmr.2017.7410
Copy and paste a formatted citation
x
Spandidos Publications style
Han Q, Zhang W, Liu C, Zhou M, Ran F, Yi L, Sun X and Liu Z: Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection. Mol Med Rep 16: 6620-6625, 2017.
APA
Han, Q., Zhang, W., Liu, C., Zhou, M., Ran, F., Yi, L. ... Liu, Z. (2017). Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection. Molecular Medicine Reports, 16, 6620-6625. https://doi.org/10.3892/mmr.2017.7410
MLA
Han, Q., Zhang, W., Liu, C., Zhou, M., Ran, F., Yi, L., Sun, X., Liu, Z."Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection". Molecular Medicine Reports 16.5 (2017): 6620-6625.
Chicago
Han, Q., Zhang, W., Liu, C., Zhou, M., Ran, F., Yi, L., Sun, X., Liu, Z."Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection". Molecular Medicine Reports 16, no. 5 (2017): 6620-6625. https://doi.org/10.3892/mmr.2017.7410
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