Screening of 99 Danish patients with congenital heart disease for GATA4 mutations
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Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. / Zhang, Litu; Tümer, Zeynep; Jacobsen, Joes Ramsøe; Andersen, Paal Skytt; Tommerup, Niels; Larsen, Lars Allan.
I: Genetic Testing, Bind 10, Nr. 4, 2006, s. 277-80.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
VL - 10
SP - 277
EP - 280
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
SN - 1945-0265
IS - 4
ER -
ID: 10794995