TY - JOUR
T1 - GATA4 mutations in 357 unrelated patients with congenital heart malformation
AU - Butler, Tanya
AU - Esposito, Giorgia
AU - Blue, Gillian
AU - Cole, Andrew
AU - Da Costa, Mauro W
AU - Waddell, Leigh
AU - Walizada, Gina
AU - Sholler, Gary
AU - Kirk, Edwin
AU - Feneley, Michael
AU - Harvey, Richard
AU - Winlaw, David
PY - 2010
Y1 - 2010
N2 - Congenital heart disease (CHD) represents one of the most common birth defects, but the genetic causes remain largely unknown. Mutations in GATA4, encoding a zinc finger transcription factor with a pivotal role in heart development, have been associated with CHD in several familial cases and a small subset of sporadic patients. To estimate the pathogenetic role of GATA4 in CHD, we screened for mutations in 357 unrelated patients with different congenital heart malformations. In addition to nine synonymous changes, we identified two known (A411V and D425N) and two novel putative mutations (G69D and P163R) in five patients with atrial or ventricular septal defects that were not seen in control subjects. The four mutations did not show altered GATA4 transcriptional activity in synergy with the transcription factors NKX2-5 and TBX20. Our data expand the spectrum of mutations associated with cardiac septal defects but do not support GATA4 mutations as a common cause of CHD.
AB - Congenital heart disease (CHD) represents one of the most common birth defects, but the genetic causes remain largely unknown. Mutations in GATA4, encoding a zinc finger transcription factor with a pivotal role in heart development, have been associated with CHD in several familial cases and a small subset of sporadic patients. To estimate the pathogenetic role of GATA4 in CHD, we screened for mutations in 357 unrelated patients with different congenital heart malformations. In addition to nine synonymous changes, we identified two known (A411V and D425N) and two novel putative mutations (G69D and P163R) in five patients with atrial or ventricular septal defects that were not seen in control subjects. The four mutations did not show altered GATA4 transcriptional activity in synergy with the transcription factors NKX2-5 and TBX20. Our data expand the spectrum of mutations associated with cardiac septal defects but do not support GATA4 mutations as a common cause of CHD.
UR - http://www.liebertonline.com/doi/pdf/10.1089/gtmb.2010.0028
U2 - 10.1089/gtmb.2010.0028
DO - 10.1089/gtmb.2010.0028
M3 - Article
SN - 1945-0265
VL - 14
SP - 797
EP - 802
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
IS - 6
ER -