Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom

December 31, 2016 updated by: Kuanshu Li, Aier Eye Hospital, Changsha
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.

Study Overview

Status

Completed

Conditions

Detailed Description

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).

Study Type

Observational

Enrollment (Actual)

9

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Nine members of two genetions of a Chinese family with ARS

Description

Inclusion Criteria:

  • a Chinese family with ARS

Exclusion Criteria:

-

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Pedigree of the family with ARS
Nine members of the same family with ARS

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Novel genetic findings in a Chinese family with Axenfeld-Rieger syndrom
Time Frame: Dec 1, 2016
Dec 1, 2016

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Aier Eye Hospital, Changsha

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2016

Primary Completion (Actual)

December 1, 2016

Study Completion (Actual)

December 1, 2016

Study Registration Dates

First Submitted

December 31, 2016

First Submitted That Met QC Criteria

December 31, 2016

First Posted (Estimate)

January 4, 2017

Study Record Updates

Last Update Posted (Estimate)

January 4, 2017

Last Update Submitted That Met QC Criteria

December 31, 2016

Last Verified

December 1, 2016

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • AierEYC

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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