A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.
Identifieur interne : 000087 ( Main/Exploration ); précédent : 000086; suivant : 000088A 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
Affiliations:
- France
- Région Bretagne
- Caen, Dijon, Grenoble, Le Havre, Lille, Nantes, Paris, Pontoise, Reims, Rennes, Rouen, Tours
- Université de Rennes 1
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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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Odent, S" sort="Odent, S" uniqKey="Odent S" first="S" last="Odent">S. 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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><placeName><settlement type="city">Caen</settlement></placeName></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><wicri:noRegion>Saint-Priest-en-Jarez</wicri:noRegion><wicri:noRegion>Saint-Priest-en-Jarez</wicri:noRegion></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><wicri:noRegion>Bron</wicri:noRegion><wicri:noRegion>Bron</wicri:noRegion></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Grenoble</settlement></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></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><idno type="wicri:Area/PubMed/Checkpoint">000039</idno><idno type="wicri:Area/Ncbi/Merge">000516</idno><idno type="wicri:Area/Ncbi/Curation">000516</idno><idno type="wicri:Area/Ncbi/Checkpoint">000516</idno><idno type="wicri:Area/Main/Merge">000086</idno><idno type="wicri:Area/Main/Curation">000087</idno><idno type="wicri:Area/Main/Exploration">000087</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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Pontoise</settlement></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Tours</settlement></placeName></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><wicri:noRegion>Bron</wicri:noRegion><wicri:noRegion>Bron</wicri:noRegion></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><placeName><settlement type="city">Nantes</settlement></placeName></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><wicri:noRegion>Bondy</wicri:noRegion><wicri:noRegion>Bondy</wicri:noRegion></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Lille</settlement></placeName></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><placeName><settlement type="city">Reims</settlement></placeName></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><placeName><settlement type="city">Dijon</settlement></placeName></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><placeName><settlement type="city">Rouen</settlement></placeName></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><placeName><settlement type="city">Le Havre</settlement></placeName></affiliation></author><author><name sortKey="Loget, P" sort="Loget, P" uniqKey="Loget P" first="P" last="Loget">P. Loget</name><affiliation wicri:level="4"><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><placeName><settlement type="city">Rennes</settlement></placeName><orgName type="university">Université de Rennes 1</orgName><placeName><settlement type="city">Rennes</settlement><region type="region" nuts="2">Région Bretagne</region></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Rennes</settlement></placeName></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><placeName><settlement type="city">Rennes</settlement></placeName></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><placeName><settlement type="city">Caen</settlement></placeName></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><wicri:noRegion>Saint-Priest-en-Jarez</wicri:noRegion><wicri:noRegion>Saint-Priest-en-Jarez</wicri:noRegion></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><wicri:noRegion>Bron</wicri:noRegion><wicri:noRegion>Bron</wicri:noRegion></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Grenoble</settlement></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></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><placeName><settlement type="city">Paris</settlement></placeName></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><affiliations><list><country><li>France</li></country><region><li>Région Bretagne</li></region><settlement><li>Caen</li><li>Dijon</li><li>Grenoble</li><li>Le Havre</li><li>Lille</li><li>Nantes</li><li>Paris</li><li>Pontoise</li><li>Reims</li><li>Rennes</li><li>Rouen</li><li>Tours</li></settlement><orgName><li>Université de Rennes 1</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Nizon, M" sort="Nizon, M" uniqKey="Nizon M" first="M" last="Nizon">M. Nizon</name></noRegion><name sortKey="Baumann, C" sort="Baumann, C" uniqKey="Baumann C" first="C" last="Baumann">C. Baumann</name><name sortKey="Bazin, A" sort="Bazin, A" uniqKey="Bazin A" first="A" last="Bazin">A. Bazin</name><name sortKey="Bessieres, B" sort="Bessieres, B" uniqKey="Bessieres B" first="B" last="Bessières">B. Bessières</name><name sortKey="Blesson, S" sort="Blesson, S" uniqKey="Blesson S" first="S" last="Blesson">S. Blesson</name><name sortKey="Bonnefont, J P" sort="Bonnefont, J P" uniqKey="Bonnefont J" first="J-P" last="Bonnefont">J-P Bonnefont</name><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><name sortKey="Cormier Daire, V" sort="Cormier Daire, V" uniqKey="Cormier Daire V" first="V" last="Cormier-Daire">V. Cormier-Daire</name><name sortKey="David, A" sort="David, A" uniqKey="David A" first="A" last="David">A. David</name><name sortKey="Delahaye Duriez, A" sort="Delahaye Duriez, A" uniqKey="Delahaye Duriez A" first="A" last="Delahaye-Duriez">A. Delahaye-Duriez</name><name sortKey="Delezoide, A L" sort="Delezoide, A L" uniqKey="Delezoide A" first="A-L" last="Delezoïde">A-L Delezoïde</name><name sortKey="Dieux Coeslier, A" sort="Dieux Coeslier, A" uniqKey="Dieux Coeslier A" first="A" last="Dieux-Coeslier">A. Dieux-Coeslier</name><name sortKey="Doco Fenzy, M" sort="Doco Fenzy, M" uniqKey="Doco Fenzy M" first="M" last="Doco-Fenzy">M. Doco-Fenzy</name><name sortKey="Faivre, L" sort="Faivre, L" uniqKey="Faivre L" first="L" last="Faivre">L. Faivre</name><name sortKey="Goldenberg, A" sort="Goldenberg, A" uniqKey="Goldenberg A" first="A" last="Goldenberg">A. Goldenberg</name><name sortKey="Henry, M" sort="Henry, M" uniqKey="Henry M" first="M" last="Henry">M. Henry</name><name sortKey="Layet, V" sort="Layet, V" uniqKey="Layet V" first="V" last="Layet">V. Layet</name><name sortKey="Loget, P" sort="Loget, P" uniqKey="Loget P" first="P" last="Loget">P. Loget</name><name sortKey="Marlin, S" sort="Marlin, S" uniqKey="Marlin S" first="S" last="Marlin">S. Marlin</name><name sortKey="Martinovic, J" sort="Martinovic, J" uniqKey="Martinovic J" first="J" last="Martinovic">J. Martinovic</name><name sortKey="Michot, C" sort="Michot, C" uniqKey="Michot C" first="C" last="Michot">C. Michot</name><name sortKey="Odent, S" sort="Odent, S" uniqKey="Odent S" first="S" last="Odent">S. Odent</name><name sortKey="Pasquier, L" sort="Pasquier, L" uniqKey="Pasquier L" first="L" last="Pasquier">L. Pasquier</name><name sortKey="Plessis, G" sort="Plessis, G" uniqKey="Plessis G" first="G" last="Plessis">G. Plessis</name><name sortKey="Prieur, F" sort="Prieur, F" uniqKey="Prieur F" first="F" last="Prieur">F. Prieur</name><name sortKey="Putoux, A" sort="Putoux, A" uniqKey="Putoux A" first="A" last="Putoux">A. Putoux</name><name sortKey="Rio, M" sort="Rio, M" uniqKey="Rio M" first="M" last="Rio">M. Rio</name><name sortKey="Testard, H" sort="Testard, H" uniqKey="Testard H" first="H" last="Testard">H. Testard</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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