Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

ABSTRACT:

Background

PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe heart malformations, including transposition of the great arteries (TGA). TGA accounts for 5-7% of all congenital heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent cyanotic heart defect diagnosed in the neonatal period.

Methods

To address whether altered PITX2 function could also contribute to the formation of dTGA in humans, we screened 96 patients with dTGA by means of dHPLC and direct sequencing for mutations within the PITX2 gene.

Results

Several SNPs could be detected, but no stop or frame shift mutation. In particular, we found seven intronic and U

SUBMITTER: Muncke N 

PROVIDER: S-EPMC1142516 | biostudies-literature | 2005 May

REPOSITORIES: biostudies-literature