title: Screening of 99 Danish patients with congenital heart disease for GATA4 mutations.
abstract: 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.
authors.affiliation: Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, DK-2200 Copenhagen, Denmark.
authors.forename: Litu
authors.initials: L
authors.lastname: Zhang
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Joes Ramsøe
authors.initials: JR
authors.lastname: Jacobsen
authors.forename: Paal Skytt
authors.initials: PS
authors.lastname: Andersen
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.forename: Lars Allan
authors.initials: LA
authors.lastname: Larsen
mesh_terms: 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
chemical_list: D050991:GATA4 Transcription Factor; C484170:GATA4 protein, human