De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes-Reference-Cited by-同舟云学术

De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

Published:2015-03-17 Issue:4 Volume:36 Page:454-462
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Gil-Rodríguez María Concepción¹,Deardorff Matthew A.²³,Ansari Morad⁴,Tan Christopher A.⁵,Parenti Ilaria⁶⁷,Baquero-Montoya Carolina¹⁸,Ousager Lilian B.⁹,Puisac Beatriz¹,Hernández-Marcos María¹,Teresa-Rodrigo María Esperanza¹,Marcos-Alcalde Iñigo¹⁰,Wesselink Jan-Jaap¹¹,Lusa-Bernal Silvia¹¹,Bijlsma Emilia K.¹²,Braunholz Diana⁶,Bueno-Martinez Inés¹¹³,Clark Dinah²,Cooper Nicola S.¹⁴,Curry Cynthia J.¹⁵,Fisher Richard¹⁶,Fryer Alan¹⁷,Ganesh Jaya²³,Gervasini Cristina⁷,Gillessen-Kaesbach Gabriele¹⁸,Guo Yiran¹⁹,Hakonarson Hakon³¹⁹,Hopkin Robert J.²⁰,Kaur Maninder²,Keating Brendan J.³¹⁹,Kibaek María²¹,Kinning Esther²²,Kleefstra Tjitske²³,Kline Antonie D.²⁴,Kuchinskaya Ekaterina²⁵,Larizza Lidia⁷,Li Yun R.¹⁹²⁶,Liu Xuanzhu²⁷,Mariani Milena²⁸,Picker Jonathan D.²⁹,Pié Ángeles¹,Pozojevic Jelena⁶,Queralt Ethel³⁰,Richer Julie³¹,Roeder Elizabeth³²,Sinha Anubha¹⁴,Scott Richard H.³³³⁴,So Joyce³⁵³⁶³⁷,Wusik Katherine A.²⁰,Wilson Louise³³,Zhang Jianguo²⁷,Gómez-Puertas Paulino¹⁰,Casale César H.³⁸,Ström Lena³⁹,Selicorni Angelo²⁸,Ramos Feliciano J.¹¹³,Jackson Laird G.⁴⁰,Krantz Ian D.²³,Das Soma⁵,Hennekam Raoul C.M.⁴¹,Kaiser Frank J.⁶,FitzPatrick David R.⁴,Pié Juan¹

Affiliation:

1. Unit of Clinical Genetics and Functional Genomics; Departments of Pharmacology-Physiology and Pediatrics; Medical School; University of Zaragoza; CIBERER-GCV and ISS-Aragon; Zaragoza Spain

2. Divisions of Genetics and Metabolism; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Department of Pediatrics; University of Pennsylvania Perelman School of Medicine; Philadelphia Pennsylvania

4. MRC Human Genetics Unit; MRC Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh UK

5. Department of Human Genetics; University of Chicago; Chicago Illinois

6. Sektion für Funktionelle Genetik am Institut für Humangenetik; Universität zu Lübeck; Lübeck Germany

7. Medical Genetics; Department of Health Sciences, Università degli Studi di Milano; Milan Italy

8. Department of Pediatrics; Hospital Pablo Tobón Uribe; Medellín Colombia

9. Departments of Clinical Genetics; Odense University Hospital; Odense Denmark

10. Molecular Modelling Group; Centro de Biología Molecular "Severo Ochoa" (CSIC-UAM); Cantoblanco Madrid Spain

11. Biomol-Informatics SL. Campus UAM; Madrid Spain

12. Department of Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands

13. Unidad de Genética Clínica; Servicio de Pediatría; Hospital Clínico Universitario “Lozano Blesa”; CIBERER-GCV and ISS-Aragón; Zaragoza Spain

14. Clinical Genetics Unit; Birmingham Women's Hospital; Birmingham UK

15. Genetic Medicine Central California; University of California San Francisco; Fresno California

16. Northern Genetics Service; Teesside Genetics Unit; The James Cook University Hospital; Middlesbrough UK

17. Department of Clinical Genetics; Liverpool Women's Hospital and Alder Hey Children's Hospital; Liverpool UK

18. Institut für Humangenetik; Universität zu Lübeck; Lübeck Germany

19. Center for Applied Genomics; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

20. Division of Human Genetics; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

21. Department of Pediatrics; HC Andersen Children's Hospital; Odense Denmark

22. West of Scotland Genetics Service; Southern General Hospital; Glasgow UK

23. Department of Human Genetics; Radboud University Nijmegen Medical Centre; Nijmegen The Netherlands

24. The Harvey Institute for Human Genetics; Greater Baltimore Medical Center; Baltimore Maryland USA

25. Department of Clinical Genetics; Linköping University Hospital; Linköping Sweden

26. Medical Scientist Training Program; University of Pennsylvania Perelman School of Medicine; Philadelphia Pennsylvania

27. BGI-Shenzhen; Shenzhen China

28. Ambulatorio Genetica Clinica Pediatrica; Clinica Pediatrica Università Milano Bicocca; Fondazione MBBM AOS Gerardo; Italy

29. Departments of Genetics and Child Psychiatry; Boston Children's Hospital; Boston Massachusetts

30. Cell Cycle Group; Cancer Epigenetics and Biology Program (PEBC); Institut d'Investigacions Biomèdica de Bellvitge (IDIBELL); L'Hospitalet de Llobregat; Barcelona Spain

31. Department of Medical Genetics; Children's Hospital of Eastern Ontario (CHEO) and University of Ottawa; Ottawa Ontario Canada

32. Division of Genetics; University of Texas San Antonio; San Antonio; Texas

33. Clinical Genetics Department; Great Ormond Street Hospital; London UK

34. Clinical and Molecular Genetics Unit; UCL Institute of Child Health; London

35. Department of Neuroscience Research; CAMH; Toronto Canada

36. The Fred A. Litwin and Family Centre in Genetic Medicine; University Health Network and Mount Sinai Hospital; Toronto Canada

37. Department of Laboratory Medicine and Pathobiology; University of Toronto; Toronto Canada

38. Department of Molecular Biology; Science School; National University of Rio Cuarto; Córdoba Argentina

39. Department of Cell and Molecular Biology; Karolinska Institutet; Stockholm Sweden

40. Department of Obstetrics and Gynecology; Drexel University College of Medicine; Philadelphia Pennsylvania

41. Department of Pediatrics; Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands

Funder

National Institutes of Health

Fundación Severo Ochoa and the European Social Fund

German Federal Ministry of Education and Research (B.M.B.F.) under the frame of E-Rare-2

Grupo Clínico Vinculado al CIBER-ER” and ISS-Aragon

Spanish Ministerio de Economía y Competitividad

The Diputación General de Aragón [Grupo Consolidado B20], European Social Fund (“Construyendo Europa desde Aragón”)

The Doris Duke Charitable Foundation

The Fundació La Marató de TV3

The Medical Research Council (UK) to the MRC Human Genetics Unit

The Spanish Ministry of Health - Fondo de Investigación Sanitaria (FIS)

University of Lübeck [Schwerpunktprogramm, Medizinische Genetik: Von seltenen Varianten zur Krankheitsentstehung]

University of Zaragoza

USA CdLS Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22761/fullpdf

Reference51 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism;Ansari;J Med Genet,2014

3. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches;Baquero-Montoya;Clin Genet,2014

4. Toward the estimation of the absolute quality of individual protein structure models;Benkert;Bioinformatics,2011

5. Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations;Borck;Hum Mutat,2007

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