Clinical utility gene card for: Cornelia de Lange syndrome

Affiliations

¹ Clinical Genetics Unit, Service of Paediatrics, University Hospital 'Lozano Blesa' Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
² Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
³ Department of Paediatrics, Hospital Pablo Tobón Uribe, Medellín, Colombia.
⁴ Department of Paediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
⁵ Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.
⁶ Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
⁷ Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
⁸ Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.
⁹ Pediatric Genetic Clinic Unit, MBBM Foundation University of Milano Bicocca, San Gerardo Hospital, Monza, Italy.
¹⁰ MRC Human Genetics Unit - MRC IGMM, University of Edinburgh, Edinburgh, UK.

Feliciano J Ramos et al. Eur J Hum Genet. 2015 Oct.

. 2015 Oct;23(10):1431.

doi: 10.1038/ejhg.2014.270. Epub 2014 Dec 24.

¹ Clinical Genetics Unit, Service of Paediatrics, University Hospital 'Lozano Blesa' Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
² Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.
³ Department of Paediatrics, Hospital Pablo Tobón Uribe, Medellín, Colombia.
⁴ Department of Paediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
⁵ Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands.
⁶ Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
⁷ Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
⁸ Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.
⁹ Pediatric Genetic Clinic Unit, MBBM Foundation University of Milano Bicocca, San Gerardo Hospital, Monza, Italy.
¹⁰ MRC Human Genetics Unit - MRC IGMM, University of Edinburgh, Edinburgh, UK.

No abstract available

References

1. 1Tonkin ET, Smith M, Eichhorn P et al: A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum Genet 2004; 115: 139–148. - PMC - PubMed
1. 2Krantz ID, McCallum J, DeScipio C et al: Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 2004; 36: 631–635. - PMC - PubMed
1. 3Huisman SA, Redeker EJ, Maas SM, Mannens MM, Hennekam RC: High rate of mosaicism in individuals with Cornelia de Lange syndrome. J Med Genet 2013; 50: 339–344. - PubMed
1. 4Castronovo P, Delahaye-Duriez A, Gervasini C et al: Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Clin Genet 2010; 78: 560–564. - PubMed
1. 5Mannini L, Cucco F, Quarantotti V, Krantz ID, Musio A: Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum Mutat 2013; 34: 1589–1596. - PMC - PubMed