HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals-Reference-Cited by-同舟云学术

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

Published:2019-08-09 Issue:10 Volume:179 Page:2049-2055
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Burkardt Deepika D'Cunha¹^ORCID,Zachariou Anna²,Loveday Chey²,Allen Clare L.³,Amor David J.⁴,Ardissone Anna⁵,Banka Siddharth⁶⁷,Bourgois Alexia⁸,Coubes Christine⁹,Cytrynbaum Cheryl¹⁰,Faivre Laurence¹¹^ORCID,Marion Gerard¹²,Horton Rachel¹³,Kotzot Dieter¹⁴,Lay‐Son Guillermo¹⁵^ORCID,Lees Melissa¹⁶,Low Karen¹⁷^ORCID,Luk Ho‐Ming¹⁸^ORCID,Mark Paul¹⁹,McConkie‐Rosell Allyn²⁰,McDonald Marie²⁰,Pappas John²¹^ORCID,Phillipe Christophe²²,Shears Deborah²³,Skotko Brian²⁴,Stewart Fiona²⁵,Stewart Helen²⁶^ORCID,Temple I Karen.²⁷,Mau‐Them Frederic T.²⁸,Verdugo Ricardo A.²⁹,Weksberg Rosanna¹⁰^ORCID,Zarate Yuri A.³⁰^ORCID,Graham John M.³¹,Tatton‐Brown Katrina²³²³³^ORCID

Affiliation:

1. Center for Human Genetics,University Hospitals Rainbow Babies and Children, Department of genetics, Case Western Reserve University Cleveland Ohio

2. Institute of Cancer Research London UK

3. Lowerbank Dental Practice Leyland UK

4. Department of PaediatricsThe Royal Children's Hospital, Murdoch Children's Research Institute, University of Melbourne Parkville Victoria Australia

5. Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Lombardia Italy

6. Faculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological SciencesUniversity of Manchester Manchester UK

7. Manchester Centre for Genomic Medicine, St Mary's HospitalManchester University NHS Foundation Trust, Health Innovation Manchester Manchester UK

8. CHU Côte de NacreService de Génétique Caen France

9. Hôpital Arnaud de Villeneuve Montpellier Montpellier France

10. Division of Clinical and Metabolic GeneticsThe Hospital for Sick Children Toronto Ontario Canada

11. Genetics CenterHôpital d'Enfants Dijon France

12. Service de GénétiqueCentre Hospitalier Universitaire de Caen Normandie Caen France

13. University Hospital Southampton NHS Foundation Trust Southampton UK

14. Division of Clinical Genetics, Department of PediatricsParacelsus Medical University Salzburg Salzburg Austria

15. División de PediatríaPontificia Universidad Católica de Chile Santiago Chile

16. Clinical Genetics DepartmentGreat Ormond Street Hospital for Children NHS Foundation Trust London UK

17. Clinical GeneticsSt Michaels Hospital, University Hospitals Bristol Bristol UK

18. Department of HealthClinical Genetic Service Hong Kong Hong Kong

19. Spectrum Health Division of Medical Genetics Grand Rapids Michigan

20. Division of Medical Genetics, Department of PediatricsDuke University Medical Genetics Durham North Carolina

21. Human Genetics ProgramUniversity School of Medicine New York New York USA

22. UF Innovation en Diagnostic Génomique des Maladies RaresCHU Dijon Bourgogne, INSERM UMR1231 GAD Dijon France

23. Clinical GeneticsChurchill Hospital Oxford UK

24. Division of Medical Genetics and Genomics, Department of PediatricsMassachusetts General Hospital, Harvard Medical School Boston Massachusetts

25. Medical GeneticsBelfast City Hospital Belfast UK

26. Clinical GeneticsOxford University Hospitals NHS Foundation Trust, Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre Oxford UK

27. Faculty of MedicineWessex Clinical Genetics Service, University Hospital Southampton, University of Southampton Southampton UK

28. UF D'innovation en Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, FHU TRANSLAD Dijon France

29. Programa de Genética HumansICBM Santiago Chile

30. Section of Genetics and MetabolismArkansas Children's Hospital Little Rock Arkansas

31. Medical GeneticsCedars‐Sinai Medical Center Los Angeles California

32. South West Thames Regional Genetics ServiceSt George's University Hospitals NHS Foundation Trust London UK

33. St George's University of London London UK

Funder

Wellcome Trust

NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61321

Reference10 articles.

1. The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism

2. Designing the new UK–WHO growth charts to enhance assessment of growth around birth

3. Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review

4. Emerging roles of linker histones in regulating chromatin structure and function

5. Nucleosome Structure and Function

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