A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings.

ABSTRACT:

Aim

To describe a Chinese family affected by a severe form of Axenfeld-Rieger syndrome (ARS) and characterize the molecular defect in PITX2 in the family.

Methods

Patients presented with typical ARS from a Chinese family were investigated. We performed genome-wide linkage scan and exome sequencing to identify the pathogenic mutations. Candidate mutations were verified for co-segregation in the whole pedigree using Sanger sequencing. Real-time polymerase chain reaction (RT-PCR) and Western blotting were performed to verify the expression of the pathogenic gene.

Results

Genome-wide linkage and exome sequencing analyses showed PITX2 as the disease candidate gene. A>G substitution at position -11 of 3'ss of exon 5 (IVS5-11A>G) that co-segregated with the dis

SUBMITTER: Sun DP 

PROVIDER: S-EPMC5515146 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature