{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["24(2)"],"submitter":["El Malti R"],"pubmed_abstract":["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 var"],"journal":["European journal of human genetics : EJHG"],"pagination":["228-36"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4717196"],"repository":["biostudies-literature"],"pubmed_title":["A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field."],"pmcid":["PMC4717196"],"pubmed_authors":["Liu H","Cordier-Alex MP","Heitz F","Teboul M","Ducreux C","Bouvagnet P","Doray B","Acar P","Vigneron J","Marcon F","Gronier C","Sanlaville D","Lusson JR","Thauvin C","Bonnet D","Maltret A","Roume J","El Malti R","Goncalves-Rocha M","Beyler C","Dauphin C","Blanchet P","Veyrier M","Levy M"],"additional_accession":[]},"is_claimable":false,"name":"A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.","description":"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 var","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Feb","modification":"2025-04-26T16:22:15.75Z","creation":"2019-03-27T02:07:06Z"},"accession":"S-EPMC4717196","cross_references":{"pubmed":["26014430"],"doi":["10.1038/ejhg.2015.105"]}}