الفهرس 
coverOnly 14 pages are availabe for public view
 |  | from | 125 |  |  |
| | | from | 125 | | |
Abstract
Atrial septal defect (ASD) is one of the most common heart defects, affecting 1 in 1000 live births, accounting for 10% of congenital heart defects
The homeobox transcription factor NKX2.5 (also known as CSX: cardiac-specific homeobox ) is essential for the later stages of heart development and maturation, it is expressed in the early cardiac mesoderm and in heart muscle lineage throughout life . The NKX2.5 gene studies revealed that it has the capabilities of DNA binding, transcriptional activation, protein-protein interactions, and regulation of other transcription factors
The aim of the present work was to screen for mutations in the NKX2.5 gene in patients affected by isolated non-syndromic ASD in order to assess the role of NKX2.5 mutations in causing these defects.
The current study comprised 25 unrelated patients with isolated non-syndromic ASD. A control group was ten normal age and sex matched individuals who had no history of congenital heart defects. All subjects were evaluated by history, review of medical records, physical examination, 2-dimentional transthorathic echocardiography with colorflow Doppler and molecular studies.