Open Access

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

  • Published online on: August 31, 2017     https://doi.org/10.3892/mmr.2017.7410
  • Pages: 6620-6625
  • Copyright: © Han et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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November-2017
Volume 16 Issue 5

Print ISSN: 1791-2997
Online ISSN:1791-3004

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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