Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.
Congenital heart disease (CHD) affects nearly 1% of the population, but only few genes involved in human CHD are presently known. Germ-line mutations in the zinc finger transcription factor GATA4 have been associated with familial cases of atrial and ventricular septal defects and pulmonary stenosis. We have screened 99 unrelated Danish patients with different CHD phenotypes to evaluate the prevalence of GATA4 mutations in CHD. No pathogenic mutations were found among the patients, suggesting that GATA4 mutations are relatively rare among CHD patients. Thus, the diagnostic importance of GATA4 mutations may be confined to familial cases or specific subgroups of CHD phenotypes.
Zhang
Litu
L
Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, DK-2200 Copenhagen, Denmark.
Tümer
Zeynep
Z
Jacobsen
Joes Ramsøe
JR
Andersen
Paal Skytt
PS
Tommerup
Niels
N
Larsen
Lars Allan
LA
D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D003718:Denmark; D005260:Female; D050991:GATA4 Transcription Factor / Q000235:genetics*; D005787:Gene Frequency; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide
D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human