A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype-Reference-Cited by-同舟云学术

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Published:2015-01-21 Issue:3 Volume:167 Page:461-475
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Terhal Paulien A.¹,Nievelstein Rutger Jan A. J.²,Verver Eva J. J.³,Topsakal Vedat³,van Dommelen Paula⁴,Hoornaert Kristien⁵,Le Merrer Martine⁶,Zankl Andreas⁷,Simon Marleen E. H.⁸,Smithson Sarah F.⁹,Marcelis Carlo¹⁰,Kerr Bronwyn¹¹,Clayton-Smith Jill¹¹,Kinning Esther¹²,Mansour Sahar¹³,Elmslie Frances¹³,Goodwin Linda¹⁴,van der Hout Annemarie H.¹⁵,Veenstra-Knol Hermine E.¹⁵,Herkert Johanna C.¹⁵,Lund Allan M.¹⁶,Hennekam Raoul C. M.¹⁷,Mégarbané André¹⁸,Lees Melissa M.¹⁹,Wilson Louise C.¹⁹,Male Alison¹⁹,Hurst Jane¹⁹²⁰,Alanay Yasemin²¹,Annerén Göran²²,Betz Regina C.²³,Bongers Ernie M. H. F.¹⁰,Cormier-Daire Valerie⁶,Dieux Anne²⁴,David Albert²⁵,Elting Mariet W.²⁶,van den Ende Jenneke²⁷,Green Andrew²⁸,van Hagen Johanna M.²⁶,Hertel Niels Thomas²⁹,Holder-Espinasse Muriel²⁴³⁰,den Hollander Nicolette³¹,Homfray Tessa,Hove Hanne D.³²,Price Susan²⁰,Raas-Rothschild Annick³³,Rohrbach Marianne³⁴,Schroeter Barbara³⁵,Suri Mohnish³⁶,Thompson Elizabeth M.³⁷,Tobias Edward S.³⁸,Toutain Annick³⁹,Vreeburg Maaike⁴⁰,Wakeling Emma⁴¹,Knoers Nine V.¹,Coucke Paul⁴²⁴³,Mortier Geert R.²⁷⁴³

Affiliation:

1. Department of Medical Genetics; University Medical Centre Utrecht; Utrecht The Netherlands

2. Department of Radiology; University Medical Centre Utrecht; Utrecht The Netherlands

3. Department of Otorhinolaryngology and Head and Neck Surgery; Rudolf Magnus Institute of Neuroscience; University Medical Centre Utrecht; Utrecht The Netherlands

4. Department of Life Style; TNO; Leiden The Netherlands

5. Department of Ophthalmology; University Hospital Ghent; Ghent Belgium

6. Department of Genetics, INSERM UMR_1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute; Hôpital Necker-Enfants Malades; Paris France

7. Academic Department of Medical Genetics; Discipline of Genetic Medicine, The University of Sydney; Sydney Children's Hospital Network (Westmead); Sydney Australia

8. Department of Clinical Genetics; Erasmus Medical Centre; University Medical Centre; Rotterdam The Netherlands

9. Department of Clinical Genetics; St. Michael's Hospital; Bristol United Kingdom

10. Department of Human Genetics; Nijmegen Centre for Molecular Life Sciences; Institute for Genetic and Metabolic Disease; Radboud University Medical Centre; Nijmegen The Netherlands

11. Manchester Centre For Genomic Medicine, University of Manchester; St Mary's Hospital; Manchester United Kingdom

12. Department of Clinical Genetics; Southern General Hospital; Glasgow United Kingdom

13. SW Thames Regional Genetics Service; St George's NHS Trust; London United Kingdom

14. Department of Genetics; Nepean Hospital; Penrith Australia

15. Department of Genetics; University Medical Centre Groningen; Groningen The Netherlands

16. Centre for Inherited Metabolic Diseases; Department of Clinical Genetics; Copenhagen University Hospital; Copenhagen Denmark

17. Department of Pediatrics; Academic Medical Centre; University of Amsterdam; Amsterdam The Netherlands

18. Unité de Génétique Médicale et Laboratoire Associé Institut National de la Santé et de la Recherche Médicale UMR-S910; Université Saint-Joseph; Beirut Lebanon

19. Department of Clinical Genetics; Great Ormond Street Hospital; London United Kingdom

20. Department of Clinical Genetics; Churchill Hospital; Oxford United Kingdom

21. Pediatric Genetics Unit; Department of Pediatrics; Acibadem University School of Medicine; Istanbul Turkey

22. Department of Immunology; Genetics and Pathology; Science for Life Laboratory; Uppsala University; Uppsala Sweden

23. Institute of Human Genetics; University of Bonn; Bonn Germany

24. Service de Génétique Clinique; Hôpital Jeanne de Flandre; Lille France

25. Service de Génétique Médicale; CHU de Nantes; Nantes France

26. Department of Clinical Genetics; VU University Medical Centre; Amsterdam The Netherlands

27. Department of Medical Genetics; Antwerp University Hospital; University of Antwerp; Edegem Belgium

28. National Centre for Medical Genetics and School of Medicine and Medical Science; University College Dublin, Our Lady's Hospital Crumlin; Dublin Ireland

29. H.C. Andersen Children's Hospital; Odense University Hospital; Odense Denmark

30. Department of Clinical Genetics; Guy's Hospital; London United Kingdom

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

32. Department of Clinical Genetics; Rigshospitalet; Copenhagen Denmark

33. Institute of Medical Genetics; Meir Medical Centre, Kfar Saba, and Sackler School of Medicine Tel Aviv University; Tel Aviv Israel

34. Division of Metabolism, Children's Research Centre, Connective Tissue Unit; University Children's Hospital Zurich; Zurich Switzerland

35. Kinderspital Lűzern; Lűzern Switzerland

36. Nottingham Clinical Genetics Service, City Hospital Campus; Nottingham University Hospitals NHS Trust; Nottingham United Kingdom

37. SA Clinical Genetics, SA Pathology at the Women's and Children's Hospital, North Adelaide, South Australia, Australia and Department of Paediatrics; University of Adelaide; Adelaide North Terrace, South Australia

38. Medical Genetics, School of Medicine, Coll Med Vet and Life Sci; University of Glasgow; Glasgow Scotland

39. Service de Génétique; Hôpital Bretonneau; Tours France

40. Department of Clinical Genetics; Maastricht University Medical Centre; Maastricht The Netherlands

41. North West Thames Regional Genetic Service; North West London Hospitals NHS Trust; London United Kingdom

42. Department of Medical Genetics; Ghent University Hospital; Ghent Belgium

43. Ghent University; Ghent Belgium

Funder

Yorkhill Children's Charity

Tenovus-Scotland

The Welcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36922/fullpdf

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5. Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia;Fernandes;Arch Biochem Biophys,1998

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