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Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome

  • Authors:
    • Mingjia Ma
    • Zongzhe Li
    • Dao Wen Wang
    • Xiang Wei
  • View Affiliations / Copyright

    Affiliations: Division of Cardiothoracic and Vascular Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China, Division of Cardiology, Department of Internal Medicine and the Genetic Diagnosis Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China
    Copyright: © Ma et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 151-158
    |
    Published online on: May 9, 2016
       https://doi.org/10.3892/mmr.2016.5229
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Abstract

Marfan syndrome (MFS) is an autosomal dominant heterogeneous disorder of connective tissue characterized by the early development of thoracic aneurysms/dissections, together with defects of the ocular and skeletal systems. Loss-of-function mutations in fibrillin-1 (FBN1) encoded by the gene, FBN1 (MFS‑1), and in the transforming growth factor β receptor 2 (TGFBR2) gene, TGFBR2 (MFS‑2), are major causes of this disorder. In the present study, a rapid and cost‑effective method for genetically diagnosing MFS was described and used to identify disease‑causing mutations in two unrelated pedigrees with MFS in mainland China. Using targeted semiconductor sequencing, two pathogenic mutations in four MFS patients of the two pedigrees were identified, including a novel frameshift insertion, p.G2120fsX2160, and a reported nonsense mutation, p.Arg529X (rs137854476), in the FBN1 gene. In addition, a rare, probably benign Chinese‑specific polymorphism in the FBN1 gene was also revealed.
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Copy and paste a formatted citation
Spandidos Publications style
Ma M, Li Z, Wang DW and Wei X: Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome. Mol Med Rep 14: 151-158, 2016.
APA
Ma, M., Li, Z., Wang, D.W., & Wei, X. (2016). Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome. Molecular Medicine Reports, 14, 151-158. https://doi.org/10.3892/mmr.2016.5229
MLA
Ma, M., Li, Z., Wang, D. W., Wei, X."Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome". Molecular Medicine Reports 14.1 (2016): 151-158.
Chicago
Ma, M., Li, Z., Wang, D. W., Wei, X."Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome". Molecular Medicine Reports 14, no. 1 (2016): 151-158. https://doi.org/10.3892/mmr.2016.5229
Copy and paste a formatted citation
x
Spandidos Publications style
Ma M, Li Z, Wang DW and Wei X: Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome. Mol Med Rep 14: 151-158, 2016.
APA
Ma, M., Li, Z., Wang, D.W., & Wei, X. (2016). Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome. Molecular Medicine Reports, 14, 151-158. https://doi.org/10.3892/mmr.2016.5229
MLA
Ma, M., Li, Z., Wang, D. W., Wei, X."Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome". Molecular Medicine Reports 14.1 (2016): 151-158.
Chicago
Ma, M., Li, Z., Wang, D. W., Wei, X."Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome". Molecular Medicine Reports 14, no. 1 (2016): 151-158. https://doi.org/10.3892/mmr.2016.5229
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