A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Identifieur interne : 000039 ( PubMed/Curation ); précédent : 000038; suivant : 000040A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Auteurs : M. Nizon [France] ; M. Henry [France] ; C. Michot [France] ; C. Baumann [France] ; A. Bazin [France] ; B. Bessières [France] ; S. Blesson [France] ; M-P Cordier-Alex [France] ; A. David [France] ; A. Delahaye-Duriez [France] ; A-L Delezoïde [France] ; A. Dieux-Coeslier [France] ; M. Doco-Fenzy [France] ; L. Faivre [France] ; A. Goldenberg [France] ; V. Layet [France] ; P. Loget [France] ; S. Marlin [France] ; J. Martinovic [France] ; S. Odent [France] ; L. Pasquier [France] ; G. Plessis [France] ; F. Prieur [France] ; A. Putoux [France] ; M. Rio [France] ; H. Testard [France] ; J-P Bonnefont [France] ; V. Cormier-Daire [France]Source :
- Clinical genetics [ 1399-0004 ] ; 2016.
Abstract
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation identified by Sanger sequencing. The diagnosis was based on the following criteria: (i) intrauterine growth retardation and postnatal short stature, (ii) feeding difficulties and/or gastro-oesophageal reflux, (iii) microcephaly, (iv) intellectual disability, and (v) characteristic facial features. We identified 37 novel NIPBL mutations including 34 in leukocytes and 3 in buccal cells only. All mutations shown to have arisen de novo when parent blood samples were available. The present series confirms the difficulty in predicting the phenotype according to the NIPBL mutation. Until now, somatic mosaicism has been observed for 20 cases which do not seem to be consistently associated with a milder phenotype. Besides, several reports support a postzygotic event for those cases. Considering these elements, we recommend a first-line buccal cell DNA analysis in order to improve gene testing sensitivity in Cornelia de Lange syndrome and genetic counselling.
DOI: 10.1111/cge.12720
PubMed: 26701315
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David</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Delahaye Duriez, A" sort="Delahaye Duriez, A" uniqKey="Delahaye Duriez A" first="A" last="Delahaye-Duriez">A. Delahaye-Duriez</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique, CHU Paris Seine-Saint-Denis, Hôpital Jean Verdier, Bondy, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU Paris Seine-Saint-Denis, Hôpital Jean Verdier, Bondy</wicri:regionArea></affiliation></author><author><name sortKey="Delezoide, A L" sort="Delezoide, A L" uniqKey="Delezoide A" first="A-L" last="Delezoïde">A-L Delezoïde</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, CHU Robert Debré, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, CHU Robert Debré, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Dieux Coeslier, A" sort="Dieux Coeslier, A" uniqKey="Dieux Coeslier A" first="A" last="Dieux-Coeslier">A. 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Layet</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, GH du Havre, Hôpital Jacques Monod, Le Havre, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, GH du Havre, Hôpital Jacques Monod, Le Havre</wicri:regionArea></affiliation></author><author><name sortKey="Loget, P" sort="Loget, P" uniqKey="Loget P" first="P" last="Loget">P. Loget</name><affiliation wicri:level="1"><nlm:affiliation>Service d'anatomie et cytologie pathologiques, Hôpital Pontchaillou, Université de Rennes 1, CHU, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service d'anatomie et cytologie pathologiques, Hôpital Pontchaillou, Université de Rennes 1, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Marlin, S" sort="Marlin, S" uniqKey="Marlin S" first="S" last="Marlin">S. Marlin</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Martinovic, J" sort="Martinovic, J" uniqKey="Martinovic J" first="J" last="Martinovic">J. Martinovic</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Odent, S" sort="Odent, S" uniqKey="Odent S" first="S" last="Odent">S. Odent</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Pasquier, L" sort="Pasquier, L" uniqKey="Pasquier L" first="L" last="Pasquier">L. Pasquier</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Plessis, G" sort="Plessis, G" uniqKey="Plessis G" first="G" last="Plessis">G. Plessis</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Clémenceau, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Clémenceau, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Prieur, F" sort="Prieur, F" uniqKey="Prieur F" first="F" last="Prieur">F. Prieur</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, CHU de Saint-Etienne, Hôpital Nord, Saint-Priest-en-Jarez, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, CHU de Saint-Etienne, Hôpital Nord, Saint-Priest-en-Jarez</wicri:regionArea></affiliation></author><author><name sortKey="Putoux, A" sort="Putoux, A" uniqKey="Putoux A" first="A" last="Putoux">A. Putoux</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Hospices Civils de Lyon, Bron, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Hospices Civils de Lyon, Bron</wicri:regionArea></affiliation></author><author><name sortKey="Rio, M" sort="Rio, M" uniqKey="Rio M" first="M" last="Rio">M. Rio</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Testard, H" sort="Testard, H" uniqKey="Testard H" first="H" last="Testard">H. Testard</name><affiliation wicri:level="1"><nlm:affiliation>Département de Pédiatrie, CHU Grenoble, Grenoble, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Pédiatrie, CHU Grenoble, Grenoble</wicri:regionArea></affiliation></author><author><name sortKey="Bonnefont, J P" sort="Bonnefont, J P" uniqKey="Bonnefont J" first="J-P" last="Bonnefont">J-P Bonnefont</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Cormier Daire, V" sort="Cormier Daire, V" uniqKey="Cormier Daire V" first="V" last="Cormier-Daire">V. Cormier-Daire</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:26701315</idno><idno type="pmid">26701315</idno><idno type="doi">10.1111/cge.12720</idno><idno type="wicri:Area/PubMed/Corpus">000039</idno><idno type="wicri:Area/PubMed/Curation">000039</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.</title><author><name sortKey="Nizon, M" sort="Nizon, M" uniqKey="Nizon M" first="M" last="Nizon">M. Nizon</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Henry, M" sort="Henry, M" uniqKey="Henry M" first="M" last="Henry">M. Henry</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Michot, C" sort="Michot, C" uniqKey="Michot C" first="C" last="Michot">C. Michot</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Baumann, C" sort="Baumann, C" uniqKey="Baumann C" first="C" last="Baumann">C. Baumann</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, CHU Robert Debré, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, CHU Robert Debré, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Bazin, A" sort="Bazin, A" uniqKey="Bazin A" first="A" last="Bazin">A. Bazin</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, CH René Dubos, Pontoise, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, CH René Dubos, Pontoise</wicri:regionArea></affiliation></author><author><name sortKey="Bessieres, B" sort="Bessieres, B" uniqKey="Bessieres B" first="B" last="Bessières">B. Bessières</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Blesson, S" sort="Blesson, S" uniqKey="Blesson S" first="S" last="Blesson">S. Blesson</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique, CHRU Tours, Hôpital Bretonneau, Tours, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHRU Tours, Hôpital Bretonneau, Tours</wicri:regionArea></affiliation></author><author><name sortKey="Cordier Alex, M P" sort="Cordier Alex, M P" uniqKey="Cordier Alex M" first="M-P" last="Cordier-Alex">M-P Cordier-Alex</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Hospices Civils de Lyon, Bron, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Hospices Civils de Lyon, Bron</wicri:regionArea></affiliation></author><author><name sortKey="David, A" sort="David, A" uniqKey="David A" first="A" last="David">A. David</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Delahaye Duriez, A" sort="Delahaye Duriez, A" uniqKey="Delahaye Duriez A" first="A" last="Delahaye-Duriez">A. Delahaye-Duriez</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique, CHU Paris Seine-Saint-Denis, Hôpital Jean Verdier, Bondy, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU Paris Seine-Saint-Denis, Hôpital Jean Verdier, Bondy</wicri:regionArea></affiliation></author><author><name sortKey="Delezoide, A L" sort="Delezoide, A L" uniqKey="Delezoide A" first="A-L" last="Delezoïde">A-L Delezoïde</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, CHU Robert Debré, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, CHU Robert Debré, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Dieux Coeslier, A" sort="Dieux Coeslier, A" uniqKey="Dieux Coeslier A" first="A" last="Dieux-Coeslier">A. Dieux-Coeslier</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, CHRU de Lille, Hôpital Jeanne de Flandre, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, CHRU de Lille, Hôpital Jeanne de Flandre, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Doco Fenzy, M" sort="Doco Fenzy, M" uniqKey="Doco Fenzy M" first="M" last="Doco-Fenzy">M. Doco-Fenzy</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique, CHU de Reims, Hôpital Maison Blanche, Reims, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique, CHU de Reims, Hôpital Maison Blanche, Reims</wicri:regionArea></affiliation></author><author><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Génétique, CHU de Dijon, Dijon, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, CHU de Dijon, Dijon</wicri:regionArea></affiliation></author><author><name sortKey="Goldenberg, A" sort="Goldenberg, A" uniqKey="Goldenberg A" first="A" last="Goldenberg">A. Goldenberg</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, CHU, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, CHU, Rouen</wicri:regionArea></affiliation></author><author><name sortKey="Layet, V" sort="Layet, V" uniqKey="Layet V" first="V" last="Layet">V. Layet</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, GH du Havre, Hôpital Jacques Monod, Le Havre, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, GH du Havre, Hôpital Jacques Monod, Le Havre</wicri:regionArea></affiliation></author><author><name sortKey="Loget, P" sort="Loget, P" uniqKey="Loget P" first="P" last="Loget">P. Loget</name><affiliation wicri:level="1"><nlm:affiliation>Service d'anatomie et cytologie pathologiques, Hôpital Pontchaillou, Université de Rennes 1, CHU, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service d'anatomie et cytologie pathologiques, Hôpital Pontchaillou, Université de Rennes 1, CHU, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Marlin, S" sort="Marlin, S" uniqKey="Marlin S" first="S" last="Marlin">S. Marlin</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Martinovic, J" sort="Martinovic, J" uniqKey="Martinovic J" first="J" last="Martinovic">J. Martinovic</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Odent, S" sort="Odent, S" uniqKey="Odent S" first="S" last="Odent">S. Odent</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Pasquier, L" sort="Pasquier, L" uniqKey="Pasquier L" first="L" last="Pasquier">L. Pasquier</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes</wicri:regionArea></affiliation></author><author><name sortKey="Plessis, G" sort="Plessis, G" uniqKey="Plessis G" first="G" last="Plessis">G. Plessis</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Médicale, CHU Clémenceau, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU Clémenceau, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Prieur, F" sort="Prieur, F" uniqKey="Prieur F" first="F" last="Prieur">F. Prieur</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, CHU de Saint-Etienne, Hôpital Nord, Saint-Priest-en-Jarez, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, CHU de Saint-Etienne, Hôpital Nord, Saint-Priest-en-Jarez</wicri:regionArea></affiliation></author><author><name sortKey="Putoux, A" sort="Putoux, A" uniqKey="Putoux A" first="A" last="Putoux">A. Putoux</name><affiliation wicri:level="1"><nlm:affiliation>Service de Génétique Clinique, Hospices Civils de Lyon, Bron, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Hospices Civils de Lyon, Bron</wicri:regionArea></affiliation></author><author><name sortKey="Rio, M" sort="Rio, M" uniqKey="Rio M" first="M" last="Rio">M. Rio</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Testard, H" sort="Testard, H" uniqKey="Testard H" first="H" last="Testard">H. Testard</name><affiliation wicri:level="1"><nlm:affiliation>Département de Pédiatrie, CHU Grenoble, Grenoble, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Pédiatrie, CHU Grenoble, Grenoble</wicri:regionArea></affiliation></author><author><name sortKey="Bonnefont, J P" sort="Bonnefont, J P" uniqKey="Bonnefont J" first="J-P" last="Bonnefont">J-P Bonnefont</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Cormier Daire, V" sort="Cormier Daire, V" uniqKey="Cormier Daire V" first="V" last="Cormier-Daire">V. Cormier-Daire</name><affiliation wicri:level="1"><nlm:affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea></affiliation></author></analytic><series><title level="j">Clinical genetics</title><idno type="eISSN">1399-0004</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation identified by Sanger sequencing. The diagnosis was based on the following criteria: (i) intrauterine growth retardation and postnatal short stature, (ii) feeding difficulties and/or gastro-oesophageal reflux, (iii) microcephaly, (iv) intellectual disability, and (v) characteristic facial features. We identified 37 novel NIPBL mutations including 34 in leukocytes and 3 in buccal cells only. All mutations shown to have arisen de novo when parent blood samples were available. The present series confirms the difficulty in predicting the phenotype according to the NIPBL mutation. Until now, somatic mosaicism has been observed for 20 cases which do not seem to be consistently associated with a milder phenotype. Besides, several reports support a postzygotic event for those cases. Considering these elements, we recommend a first-line buccal cell DNA analysis in order to improve gene testing sensitivity in Cornelia de Lange syndrome and genetic counselling.</div></front></TEI><pubmed><MedlineCitation Status="In-Data-Review" Owner="NLM"><PMID Version="1">26701315</PMID><DateCreated><Year>2016</Year><Month>4</Month><Day>25</Day></DateCreated><DateRevised><Year>2016</Year><Month>4</Month><Day>25</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1399-0004</ISSN><JournalIssue CitedMedium="Internet"><Volume>89</Volume><Issue>5</Issue><PubDate><Year>2016</Year><Month>May</Month></PubDate></JournalIssue><Title>Clinical genetics</Title><ISOAbbreviation>Clin. Genet.</ISOAbbreviation></Journal><ArticleTitle>A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.</ArticleTitle><Pagination><MedlinePgn>584-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1111/cge.12720</ELocationID><Abstract><AbstractText>Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to de novo heterozygous NIPBL mutation. Recently, NIPBL somatic mosaicism has been highlighted through buccal cell DNA study in some patients with a negative molecular analysis on leukocyte DNA. Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation identified by Sanger sequencing. The diagnosis was based on the following criteria: (i) intrauterine growth retardation and postnatal short stature, (ii) feeding difficulties and/or gastro-oesophageal reflux, (iii) microcephaly, (iv) intellectual disability, and (v) characteristic facial features. We identified 37 novel NIPBL mutations including 34 in leukocytes and 3 in buccal cells only. All mutations shown to have arisen de novo when parent blood samples were available. The present series confirms the difficulty in predicting the phenotype according to the NIPBL mutation. Until now, somatic mosaicism has been observed for 20 cases which do not seem to be consistently associated with a milder phenotype. Besides, several reports support a postzygotic event for those cases. Considering these elements, we recommend a first-line buccal cell DNA analysis in order to improve gene testing sensitivity in Cornelia de Lange syndrome and genetic counselling.</AbstractText><CopyrightInformation>© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Nizon</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Henry</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Michot</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baumann</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Département de Génétique, CHU Robert Debré, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bazin</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Département de Génétique, CH René Dubos, Pontoise, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bessières</LastName><ForeName>B</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Blesson</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Service de Génétique, CHRU Tours, Hôpital Bretonneau, Tours, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cordier-Alex</LastName><ForeName>M-P</ForeName><Initials>MP</Initials><AffiliationInfo><Affiliation>Service de Génétique Clinique, Hospices Civils de Lyon, Bron, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>David</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Service de Génétique Médicale, CHU, Nantes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Delahaye-Duriez</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Service de Génétique, CHU Paris Seine-Saint-Denis, Hôpital Jean Verdier, Bondy, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Delezoïde</LastName><ForeName>A-L</ForeName><Initials>AL</Initials><AffiliationInfo><Affiliation>Département de Génétique, CHU Robert Debré, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dieux-Coeslier</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Service de Génétique Clinique, CHRU de Lille, Hôpital Jeanne de Flandre, Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Doco-Fenzy</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Service de Génétique, CHU de Reims, Hôpital Maison Blanche, Reims, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Faivre</LastName><ForeName>L</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Centre de Génétique, CHU de Dijon, Dijon, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Goldenberg</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Département de Génétique, CHU, Rouen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Layet</LastName><ForeName>V</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Service de Génétique Médicale, GH du Havre, Hôpital Jacques Monod, Le Havre, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Loget</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Service d'anatomie et cytologie pathologiques, Hôpital Pontchaillou, Université de Rennes 1, CHU, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marlin</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martinovic</LastName><ForeName>J</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Odent</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pasquier</LastName><ForeName>L</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Service de Génétique Clinique, CHU Rennes, Hôpital Sud, Rennes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Plessis</LastName><ForeName>G</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Service de Génétique Médicale, CHU Clémenceau, Caen, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Prieur</LastName><ForeName>F</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Service de Génétique Clinique, CHU de Saint-Etienne, Hôpital Nord, Saint-Priest-en-Jarez, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Putoux</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Service de Génétique Clinique, Hospices Civils de Lyon, Bron, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rio</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Testard</LastName><ForeName>H</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Département de Pédiatrie, CHU Grenoble, Grenoble, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bonnefont</LastName><ForeName>J-P</ForeName><Initials>JP</Initials><AffiliationInfo><Affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cormier-Daire</LastName><ForeName>V</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, INSERM UMR1163, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>ENG</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>Feb</Month><Day>03</Day></ArticleDate></Article><MedlineJournalInfo><Country>Denmark</Country><MedlineTA>Clin Genet</MedlineTA><NlmUniqueID>0253664</NlmUniqueID><ISSNLinking>0009-9163</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Cornelia de Lange syndrome</Keyword><Keyword MajorTopicYN="N">NIPBL</Keyword><Keyword MajorTopicYN="N">buccal cells</Keyword><Keyword MajorTopicYN="N">somatic mosaicism</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>9</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>12</Month><Day>17</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>12</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>12</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>12</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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