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Article

A novel mutation of FOXC1 in a Chinese family with Axenfeld‑Rieger syndrome

  • Authors:
    • Xing Wu
    • Hai‑Nan Xie
    • Tong Wu
    • Wei Liu
    • Lan‑Lam Chen
    • Zhao‑Hui Li
    • Da‑Jiang Wang
    • Yi Wang
    • Hou‑Bin Huang
  • View Affiliations / Copyright

    Affiliations: Department of Ophthalmology, Chinese PLA General Hospital, Beijing 100853, P.R. China, Department of Ophthalmology, Hainan Hospital of Chinese PLA General Hospital, Sanya, Hainan 572000, P.R. China
  • Pages: 2255-2261
    |
    Published online on: July 18, 2019
       https://doi.org/10.3892/etm.2019.7789
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Abstract

Axenfeld‑Rieger syndrome (ARS) is a disorder affecting the anterior segment of the eye and causing systemic malformations, and follows an autosomal‑dominant inheritance pattern. The aim of the present study was to identify the underlying cause of ARS in a Chinese family. Genomic DNA was extracted from the peripheral blood of the subjects from a family with ARS. The pathogenic variant was identified by targeted next‑generation sequencing and confirmed by Sanger sequencing. A novel heterozygous mutation of the forkhead box (FOX)C1 gene (c.1494delG, p.G499Afs*20) was detected in all affected members of the family, while no mutation was identified in the unaffected members or in the 150 normal controls. The affected members exhibited typical ocular and craniofacial anomalies. The results of the present study demonstrated that a novel deletion in exon 1 of the FOXC1 gene caused ARS in this Chinese family.
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Copy and paste a formatted citation
Spandidos Publications style
Wu X, Xie HN, Wu T, Liu W, Chen LL, Li ZH, Wang DJ, Wang Y and Huang HB: A novel mutation of FOXC1 in a Chinese family with Axenfeld‑Rieger syndrome. Exp Ther Med 18: 2255-2261, 2019.
APA
Wu, X., Xie, H., Wu, T., Liu, W., Chen, L., Li, Z. ... Huang, H. (2019). A novel mutation of FOXC1 in a Chinese family with Axenfeld‑Rieger syndrome. Experimental and Therapeutic Medicine, 18, 2255-2261. https://doi.org/10.3892/etm.2019.7789
MLA
Wu, X., Xie, H., Wu, T., Liu, W., Chen, L., Li, Z., Wang, D., Wang, Y., Huang, H."A novel mutation of FOXC1 in a Chinese family with Axenfeld‑Rieger syndrome". Experimental and Therapeutic Medicine 18.3 (2019): 2255-2261.
Chicago
Wu, X., Xie, H., Wu, T., Liu, W., Chen, L., Li, Z., Wang, D., Wang, Y., Huang, H."A novel mutation of FOXC1 in a Chinese family with Axenfeld‑Rieger syndrome". Experimental and Therapeutic Medicine 18, no. 3 (2019): 2255-2261. https://doi.org/10.3892/etm.2019.7789
Copy and paste a formatted citation
x
Spandidos Publications style
Wu X, Xie HN, Wu T, Liu W, Chen LL, Li ZH, Wang DJ, Wang Y and Huang HB: A novel mutation of FOXC1 in a Chinese family with Axenfeld‑Rieger syndrome. Exp Ther Med 18: 2255-2261, 2019.
APA
Wu, X., Xie, H., Wu, T., Liu, W., Chen, L., Li, Z. ... Huang, H. (2019). A novel mutation of FOXC1 in a Chinese family with Axenfeld‑Rieger syndrome. Experimental and Therapeutic Medicine, 18, 2255-2261. https://doi.org/10.3892/etm.2019.7789
MLA
Wu, X., Xie, H., Wu, T., Liu, W., Chen, L., Li, Z., Wang, D., Wang, Y., Huang, H."A novel mutation of FOXC1 in a Chinese family with Axenfeld‑Rieger syndrome". Experimental and Therapeutic Medicine 18.3 (2019): 2255-2261.
Chicago
Wu, X., Xie, H., Wu, T., Liu, W., Chen, L., Li, Z., Wang, D., Wang, Y., Huang, H."A novel mutation of FOXC1 in a Chinese family with Axenfeld‑Rieger syndrome". Experimental and Therapeutic Medicine 18, no. 3 (2019): 2255-2261. https://doi.org/10.3892/etm.2019.7789
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