biostudies-literatureUnknown24(2)El Malti RThe etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvular arterial stenosis. Twenty-two variants were found, but segregation analysis confirmed unambiguously the causality of 16 varEuropean journal of human genetics : EJHG228-36https://www.ebi.ac.uk/biostudies/studies/S-EPMC4717196biostudies-literatureA systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.PMC4717196Liu HCordier-Alex MPHeitz FTeboul MDucreux CBouvagnet PDoray BAcar PVigneron JMarcon FGronier CSanlaville DLusson JRThauvin CBonnet DMaltret ARoume JEl Malti RGoncalves-Rocha MBeyler CDauphin CBlanchet PVeyrier MLevy MfalseA systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvular arterial stenosis. Twenty-two variants were found, but segregation analysis confirmed unambiguously the causality of 16 var2016-01-01T00:00:00Z2016 Feb2025-04-26T16:22:15.75Z2019-03-27T02:07:06ZS-EPMC47171962601443010.1038/ejhg.2015.105