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<publisher>HAL CCSD</publisher>
<title lang=en>A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field</title>
<creator>El Malti, Rajae</creator>
<creator>Liu, Hui</creator>
<creator>Thauvin, Christel</creator>
<creator>Maltret, Alice</creator>
<creator>Dauphin, Claire</creator>
<creator>Teboul, Michel</creator>
<creator>Blanchet, Patricia</creator>
<creator>Roume, Joëlle</creator>
<creator>Marçon, François</creator>
<creator>Lusson, Jean-René</creator>
<creator>Levy, Marilyne</creator>
<creator>Beyler, Constance</creator>
<creator>Vigneron, Jacqueline</creator>
<creator>Cordier-Alex, Marie-Pierre</creator>
<creator>Heitz, François</creator>
<creator>Sanlaville, Damien</creator>
<creator>Bonnet, Damien</creator>
<creator>Bouvagnet, Patrice</creator>
<contributor>Laboratoire Cardiogénétique ; Centre de Biologie et pathologie Est</contributor>
<contributor>Laboratoire de Mécanique et d'Acoustique [Marseille] (LMA ) ; Aix Marseille Université (AMU) - Ecole Centrale de Marseille (ECM) - Centre National de la Recherche Scientifique (CNRS)</contributor>
<contributor>Laboratoire de Simulation du Comportement des Combustibles (LSC) ; Commissariat à l'énergie atomique et aux énergies alternatives (CEA)</contributor>
<contributor>Génétique des Anomalies du Développement (GAD) ; Université de Bourgogne (UB) - IFR100 - Structure fédérative de recherche Santé-STIC</contributor>
<contributor>Service de génétique ; CHU Dijon ; Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon) - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)</contributor>
<contributor>Service de cardiologie pédiatrique [CHU Necker] ; Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Necker - Enfants Malades [AP-HP]</contributor>
<contributor>Service de médecine interne, hôpital Gabriel-Montpied ; CHU Clermont-Ferrand</contributor>
<contributor>Institut de Biologie Valrose (IBV) ; Université Nice Sophia Antipolis (UNS) ; Université Côte d'Azur (UCA) - Université Côte d'Azur (UCA) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS)</contributor>
<contributor>Institut de recherche, santé, environnement et travail [Rennes] (Irset) ; Université d'Angers (UA) - Université des Antilles et de la Guyane (UAG) - Université de Rennes 1 (UR1) - École des Hautes Études en Santé Publique [EHESP] (EHESP) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )</contributor>
<contributor>Service de Génétique ; Hôpital Poissy-saint Germain</contributor>
<contributor>Service cardiologie pédiatrique [Nancy] ; Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)</contributor>
<contributor>CHU Gabriel Montpied (CHU) ; CHU Clermont-Ferrand</contributor>
<contributor>Hôpital Robert Debré Paris ; Hôpital Robert Debré</contributor>
<contributor>Institut Lavoisier de Versailles (ILV) ; Université de Versailles Saint-Quentin-en-Yvelines (UVSQ) - Centre National de la Recherche Scientifique (CNRS)</contributor>
<contributor>Hospices Civils de Lyon</contributor>
<contributor>Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube) ; École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES) - Université de Strasbourg (UNISTRA) - Institut National des Sciences Appliquées (INSA)</contributor>
<contributor>Université Claude Bernard Lyon 1 (UCBL)</contributor>
<contributor>Centre de recherche en neurosciences de Lyon ; Université Claude Bernard Lyon 1 (UCBL) - Université Jean Monnet [Saint-Étienne] (UJM) - Université de Lyon - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS)</contributor>
<description>International audience</description>
<source>ISSN: 1018-4813</source>
<source>EISSN: 1476-5438</source>
<source>European Journal of Human Genetics</source>
<publisher>Nature Publishing Group</publisher>
<identifier>hal-01404211</identifier>
<identifier>https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01404211</identifier>
<source>https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01404211</source>
<source>European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (2), pp.228 - 236. 〈http://www.nature.com/ejhg/journal/v24/n2/full/ejhg2015105a.html〉. 〈10.1038/ejhg.2015.105〉</source>
<identifier>DOI : 10.1038/ejhg.2015.105</identifier>
<relation>info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2015.105</relation>
<identifier>PUBMED : 26014430</identifier>
<relation>info:eu-repo/semantics/altIdentifier/pmid/26014430</relation>
<source>http://www.nature.com/ejhg/journal/v24/n2/full/ejhg2015105a.html</source>
<language>en</language>
<subject lang=en>variability</subject>
<subject lang=en>malformations</subject>
<subject lang=en>epidemiology</subject>
<subject lang=en>3 large registries</subject>
<subject lang=en>cardiovascular defects</subject>
<subject lang=en>zic3 mutations</subject>
<subject lang=en>de-novo</subject>
<subject lang=en>disease</subject>
<subject lang=en>cardiomyopathy</subject>
<subject lang=en>22q11.2</subject>
<subject>[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology</subject>
<type>info:eu-repo/semantics/article</type>
<type>Journal articles</type>
<description lang=en>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 variants: GATA4 (1 x), NKX2-5 (6 x), ZIC3 (3 x), MLPA (2 x) and ELN (4 x). Therefore, this approach was able to identify the causal variant in 10.4% of familial CHD cases. This study demonstrated the existence of a de novo variant even in familial CHD cases and the impact of CHD variants on adult cardiac condition even in the absence of CHD. This study showed that the systematic screening of genetic factors is useful in familial CHD cases with up to 10.4% elucidated cases. When successful, it drastically improved genetic counseling by discovering unaffected variant carriers who are at risk of transmitting their variant and are also exposed to develop cardiac complications during adulthood thus prompting long-term cardiac follow-up. This study provides an important baseline at dawning of the next-generation sequencing era.</description>
<date>2016-02</date>
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