Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 9
- 主要终点
- Novel genetic findings in a Chinese family with Axenfeld-Rieger syndrom
研究概览
简要总结
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, characterized by anterior segment abnormalities and systemic abnormalities. To date,two major genes, forkhead box C1 (FOXC1) on chromosome 6p25 and pituitary homeobox 2 (PITX2) on chromosome 4q25, have been demonstrated to cause ARS. In this study, we performed complete ophthalmologic examinations and analysis of FOXC1 and PITX2 of a Chinese family with ARS.
详细描述
Two genetions of a Chinese family with ARS were recruited to Aier Eye Hospital of Changsha.
Clinical evaluations: We performed full ophthalmologic examinations of all subjects, including: visual acuity, intraocular pressure measurements (Goldman), slit lamp, anterior segment photography, visual field test (Humphrey 750, Carl Zeiss, Germany), Anterior segment OCT (Carl Zeiss, Germany). If the refractive medium is clear, we also performed funduscopy, gonioscopic and retinal nerve fiber layer (RNFL) thickness measurements (Carl Zeiss, Germany).
Mutation analysis: About 2 ml of venous blood sampled from each subject and collected in Vacutainer tubes (Sanjiu Medical Technology Co., Ltd., Liuyang, China) containing EDTA. Genomic DNA was extracted from each blood using a genomic DNA mini kit for blood (Life Technologies), All coding exons, with flanking intronic regions, of FOXC1 and PITX2 were amplified using PCR with primers. The amplifed DNA was purifed by agarose gel electrophoresis and sequenced on a 3730/3700xl automated DNA sequencer (Applied Biosystems).
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •a Chinese family with ARS
排除标准
- 未提供
结局指标
主要结局
Novel genetic findings in a Chinese family with Axenfeld-Rieger syndrom
时间窗: Dec 1, 2016
次要结局
未报告次要终点
研究者
Kuanshu Li
MD-candidate
Aier Eye Hospital, Changsha