PITX2C loss-of-function mutations responsible for idiopathic atrial fibrillation.

ABSTRACT:

Objective

This study aimed to identify novel PITX2c mutations responsible for idiopathic atrial fibrillation.

Methods

A cohort of 210 unrelated patients with idiopathic atrial fibrillation and 200 unrelated, ethnically matched healthy individuals used as controls were recruited. The whole coding exons and splice junctions of the PITX2c gene, which encodes a paired-like homeobox transcription factor required for normal cardiovascular morphogenesis, were sequenced in 210 patients and 200 control subjects. The causative potentials of the identified mutations were automatically predicted by MutationTaster and PolyPhen-2. The functional characteristics of the PITX2c mutations were explored using a dual-luciferase reporter assay system.

Results

Two novel heterozygous PITX2c

SUBMITTER: Qiu XB 

PROVIDER: S-EPMC3870307 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature