PDF(Sci-hub)
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.
摘要：
Axenfeld-Rieger综合征（ARS）是一种影响眼前节并引起全身畸形的疾病，并遵循常染色体显性遗传模式。本研究的目的是确定中国家庭中ARS的根本原因。从患有ARS的家庭的受试者的外周血中提取基因组DNA。通过靶向下一代测序鉴定致病性变体,并通过Sanger测序确认。叉头框（FOX）C1基因的新杂合突变（c.1494delG，p.G499Afs*20)在所有受影响的家庭成员中检测到，而未受影响的成员或150个正常对照中未发现突变。受影响的成员表现出典型的眼和颅面异常。本研究的结果表明，FOXC1基因外显子1的新缺失引起了该中国家族的ARS。
