Open Access

A novel FBN1 mutation causes autosomal dominant Marfan syndrome

  • Authors:
    • Ying Xiao
    • Xiaoqi Liu
    • Xiaoxin Guo
    • Liping Liu
    • Linxin Jiang
    • Qi Wang
    • Bo Gong
  • View Affiliations

  • Published online on: September 20, 2017     https://doi.org/10.3892/mmr.2017.7544
  • Pages: 7321-7328
  • Copyright: © Xiao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited. The family members underwent complete physical, cardiovascular and ophthalmologic examinations. Genomic DNA samples were collected from the family along with 383 unrelated healthy subjects. FBN1 coding regions were amplified by polymerase chain reaction and analyzed by direct sequencing. SIFT and PolyPhen‑2 were used to predict the possible structural and functional alterations of the protein. A novel heterozygous mutation c.1708 T>G (p.C570G) in exon 14 was identified, which led to a substitution of cysteine by glycine at codon 570 (p.C570G). The mutation was identified as being associated with the MFS phenotype in the affected members of this family. However, the unaffected family members and the 383 normal controls lacked the mutation. Multiple sequence alignment of the human FBN1 protein revealed that this novel mutation occurred within a highly conserved region of the FBN1 protein across different species and may induce structural alterations in this functional domain. The spectrum of MFS‑associated mutations in the FBN1 gene has been enriched from this study; this may improve understanding of the molecular pathogenesis and clinical diagnosis of MFS.
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November-2017
Volume 16 Issue 5

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

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Copy and paste a formatted citation
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Spandidos Publications style
Xiao Y, Liu X, Guo X, Liu L, Jiang L, Wang Q and Gong B: A novel FBN1 mutation causes autosomal dominant Marfan syndrome. Mol Med Rep 16: 7321-7328, 2017
APA
Xiao, Y., Liu, X., Guo, X., Liu, L., Jiang, L., Wang, Q., & Gong, B. (2017). A novel FBN1 mutation causes autosomal dominant Marfan syndrome. Molecular Medicine Reports, 16, 7321-7328. https://doi.org/10.3892/mmr.2017.7544
MLA
Xiao, Y., Liu, X., Guo, X., Liu, L., Jiang, L., Wang, Q., Gong, B."A novel FBN1 mutation causes autosomal dominant Marfan syndrome". Molecular Medicine Reports 16.5 (2017): 7321-7328.
Chicago
Xiao, Y., Liu, X., Guo, X., Liu, L., Jiang, L., Wang, Q., Gong, B."A novel FBN1 mutation causes autosomal dominant Marfan syndrome". Molecular Medicine Reports 16, no. 5 (2017): 7321-7328. https://doi.org/10.3892/mmr.2017.7544