Expanding the phenotype of ASXL3 ‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3-Reference-Cited by-同舟云学术

Expanding the phenotype of ASXL3 ‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Published:2021-08-26 Issue:11 Volume:185 Page:3446-3458
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Schirwani Schaida¹²^ORCID,Albaba Shadi³,Carere Deanna Alexis⁴,Guillen Sacoto Maria J.⁴,Milan Zamora Francisca⁴,Si Yue⁴,Rabin Rachel⁵^ORCID,Pappas John⁵,Renaud Deborah L.⁶,Hauser Natalie⁷^ORCID,Reid Evan⁸,Blanchet Patricia⁹,Foulds Nichola¹⁰¹¹,Dixit Abhijit¹²,Fisher Richard¹³,Armstrong Ruth¹⁴,Isidor Bertrand¹⁵,Cogne Benjamin¹⁵,Schrier Vergano Samantha¹⁶^ORCID,Demirdas Serwet¹⁷,Dykzeul Natalie¹⁸,Cohen Julie S.¹⁹²⁰,Grand Katheryn²¹,Morel Dayna²²,Slavotinek Anne²³,Albassam Hessa F.²⁴,Naik Swati²⁵,Dean John²⁶,Ragge Nicola²⁵,Cinzia Costa²⁷,Tedesco Maria Giovanna²⁸²⁹,Harrison Rachel E.¹²,Bouman Arjan¹⁷^ORCID,Palen Emily³⁰,Challman Thomas D.³⁰,Willemsen Marjolein H.³¹,Vogt Julie²⁵,Cunniff Christopher³²^ORCID,Bergstrom Katherine³²^ORCID,Walia Jagdeep S.³³,Bruel Ange‐Line³⁴^ORCID,Kini Usha³⁵,Alkuraya Fowzan S.³⁶^ORCID,Slegesky Valerie³⁷,Meeks Naomi³⁷,Girotto Paula³⁸,Johnson Diana¹³⁹,Newbury‐Ecob Ruth⁴⁰,Ockeloen Charlotte W.³¹,Prontera Paolo²⁸^ORCID,Lynch Sally Ann⁴¹,Li Dong⁴²^ORCID,Graham John M.⁴³^ORCID,Balasubramanian Meena¹²,

Affiliation:

1. Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust Sheffield UK

2. Academic Unit of Child Health, Department of Oncology & Metabolism University of Sheffield Sheffield UK

3. Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust Sheffield UK

4. GeneDx, Inc Gaithersburg Maryland USA

5. Department of Pediatrics New York University School of Medicine New York New York USA

6. Division of Child and Adolescent Neurology, Departments of Neurology and Pediatrics Mayo Clinic Rochester Minnesota USA

7. Department of Pediatrics, Division of Medical Genomics Inova Health System Falls Church Virginia USA

8. Department of Medical Genetics Cambridge Institute for Medical Research, University of Cambridge Cambridge UK

9. Département de Génétique Médicale CHU de Montpellier Montpellier France

10. Wessex Clinical Genetics Services University Hospital Southampton NHS Foundation Trust Southampton UK

11. Faculty of Medicine University of Southampton Southampton UK

12. Clinical Genetics Service, Nottingham University Hospitals NHS Trust Nottingham UK

13. Teesside Genetics Unit, The James Cook University Hospital Middlesbrough UK

14. Departments of Medical Genetics and Paediatric Neurology Cambridge University Hospitals NHS Foundation Trust Cambridge UK

15. Service de génétique médicale, CHU Nantes Nantes France

16. Medical Genetics and Metabolism, Children's Hospital of The King's Daughters Eastern Virginia Medical School Norfolk Virginia USA

17. Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam The Netherlands

18. Lucile Packard Children's Hospital, Stanford Children's Health Palo Alto California USA

19. Division of Neurogenetics Kennedy Krieger Institute Baltimore Maryland USA

20. Department of Neurology Johns Hopkins University School of Medicine Baltimore Maryland USA

21. Department of Pediatrics, Medical Genetics Cedars‐Sinai Medical Center Los Angeles California USA

22. University of Miami, Miller School of Medicine Miami Florida USA

23. Department of Pediatrics, Division of Genetics University of California, San Francisco San Francisco California USA

24. Department of Pediatrics Care National Hospital Riyadh Saudi Arabia

25. West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital Birmingham UK

26. Clinical Genetics Service, NHS Grampian, Aberdeen Royal Infirmary Aberdeen UK

27. Neurology Clinic, Department of Medicine, Santa Maria della Misericordia Hospital University of Perugia Perugia Italy

28. Medical Genetics Unit, Santa Maria della Misericordia Hospital University of Perugia Perugia Italy

29. Genetics Unit, "Mauro Baschirotto" Institute for Rare Diseases (B.I.R.D.), Costozza di Longare Vicenza Italy

30. Autism & Developmental Medicine Institute, Geisinger Danville Pennsylvania USA

31. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

32. Division of Medical Genetics, Department of Pediatrics Weill Cornell Medical College New York New York USA

33. Divsion of Medical Genetics, Departments of Pediatrics Queen's University Kingston Ontario Canada

34. UFR Des Sciences de Santé, INSERM‐Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU‐TRANSLAD Dijon France

35. Department of Clinical Genetics Oxford University Hospitals NHS Trust Oxford UK

36. Department of Translational Genomics Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

37. University of Colorado & Children's Hospital Colorado Denver Colorado USA

38. Division of Child Neurology, Department of Pediatrics Santa Casa de São Paulo School of Medical Sciences São Paulo Brazil

39. EDS National Diagnostic Service, Sheffield Children's NHS Foundation Trust Sheffield UK

40. Bristol Regional Genetics Service, St Michael's Hospital Bristol UK

41. Department of Clinical Genetics Temple Street Children's Hospital Dublin Ireland

42. Center for Applied Genomics, The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

43. Cedars‐Sinai Medical Center, Harbor‐UCLA Medical Center, David Geffen School of Medicine at UCLA Los Angeles California USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62465

Reference26 articles.

1. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

2. Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1

3. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

4. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients withde novo, heterozygous, loss-of-function mutations inASXL3and review of published literature

5. Retraso global del desarrollo y microcefalia posnatal: síndrome de Bainbridge-Ropers con una nueva variante de novo en ASXL3

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1. Co‐occurrence and inheritance of two typically sporadic neurogenetic disorders;Annals of the Child Neurology Society;2023-12-12

2. Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3);Frontiers in Neuroscience;2023-11-06

3. To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders;Neuroscience & Biobehavioral Reviews;2023-09

4. An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty;2023-07-26

5. H2A monoubiquitination: insights from human genetics and animal models;Human Genetics;2023-04-22