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

Wu,Xing; Xie,Hai‑Nan; Wu,Tong; Liu,Wei; Chen,Lan‑Lam; Li,Zhao‑Hui; Wang,Da‑Jiang; Wang,Yi; Huang,Hou‑Bin

doi:10.3892/etm.2019.7789

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
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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
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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