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

  • Published online on: July 18, 2019     https://doi.org/10.3892/etm.2019.7789
  • Pages: 2255-2261
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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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September 2019
Volume 18 Issue 3

Print ISSN: 1792-0981
Online ISSN:1792-1015

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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