Screening of 99 Danish patients with congenital heart disease for GATA4 mutations

TY - JOUR

T1 - Screening of 99 Danish patients with congenital heart disease for GATA4 mutations

AU - Zhang, Litu

AU - Tümer, Zeynep

AU - Jacobsen, Joes Ramsøe

AU - Andersen, Paal Skytt

AU - Tommerup, Niels

AU - Larsen, Lars Allan

N1 - Keywords: Child, Preschool; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Denmark; Female; GATA4 Transcription Factor; Gene Frequency; Genetic Screening; Germ-Line Mutation; Heart Defects, Congenital; Humans; Polymorphism, Single Nucleotide

PY - 2006

Y1 - 2006

N2 - 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.

AB - 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.

U2 - 10.1089/gte.2006.10.277

DO - 10.1089/gte.2006.10.277

M3 - Journal article

C2 - 17253934

SN - 1945-0265

VL - 10

SP - 277

EP - 280

JO - Genetic Testing and Molecular Biomarkers

JF - Genetic Testing and Molecular Biomarkers

IS - 4

ER -