Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin-Reference-Cited by-同舟云学术

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

Published:2021-09-13 Issue:1 Volume:188 Page:272-282
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Lippe Charlotte¹^ORCID,Tveten Kristian¹,Prescott Trine E.¹,Holla Øystein L.¹,Busk Øyvind L.¹,Burke Katherine B.²,Sansbury Francis H.²,Baptista Júlia³⁴^ORCID,Fry Andrew E.²⁵,Lim Derek⁶,Jolles Stephen⁷^ORCID,Evans Jennifer⁸,Osio Deborah⁶,Macmillan Carol⁹,Bruno Irene¹⁰,Faletra Flavio¹⁰,Climent Salvador¹¹,Urreitzi Roser¹²^ORCID,Hoenicka Janet¹³^ORCID,Palau Francesc¹³¹⁴¹⁵^ORCID,Cohen Ana S. A.¹⁶¹⁷¹⁸,Engleman Kendra¹⁸¹⁹,Zhou Dihong¹⁸¹⁹,Amudhavalli Shivarajan M.¹⁸¹⁹,Jeanne Médéric²⁰²¹²²,Bonnet‐Brilhault Frédérique²¹²²,Lévy Jonathan²³²⁴^ORCID,Drunat Séverine²³²⁴,Derive Nicolas²⁴^ORCID,Haug Marte G.²⁵,Thorstensen Wenche M.²⁶²⁷^ORCID

Affiliation:

1. Department of Medical Genetics Telemark Hospital Trust Skien Norway

2. All Wales Medical Genomics Service, Cardiff and Vale University Health Board University Hospital of Wales Cardiff UK

3. Exeter Genomics Laboratory Royal Devon and Exeter NHS Foundation Trust Exeter UK

4. Institute of Biomedical and Clinical Science University of Exeter Medical School Exeter UK

5. Division of Cancer and Genetics, School of Medicine Cardiff University Cardiff UK

6. Clinical Genetics, West Midlands Regional Genetics Service Birmingham Women's and Children's NHS Foundation Trust Birmingham UK

7. Immunodeficiency Centre for Wales University Hospital of Wales Cardiff UK

8. Department of Paediatrics University Hospital of Wales Cardiff UK

9. Department of Pediatrics University of Chicago Chicago Illinois USA

10. Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste Italy

11. Pediatrics Service Hospital General d'Ontinyent Ontinyent Spain

12. Department of Clinical Biochemistry and CIBERER Institut de Recerca Sant Joan de Déu Barcelona Spain

13. Laboratory of Neurogenetics and Molecular Medicine – IPER and CIBERER Institut de Recerca Sant Joan de Déu Barcelona Spain

14. Department of Genetic Medicine – IPER Hospital Sant Joan de Déu Barcelona Spain

15. Hospital Clínic and Division of Pediatrics, School of Medicine and Health Sciences University of Barcelona Barcelona Spain

16. Department of Pathology and Laboratory Medicine Children's Mercy Hospital Kansas City Missouri USA

17. Genomic Medicine Center Children's Mercy Hospital Kansas City Missouri USA

18. Kansas City School of Medicine University of Missouri Kansas City Missouri USA

19. Division of Clinical Genetics Children's Mercy Hospital Kansas City Missouri USA

20. Service de Génétique Centre Hospitalier Régional Universitaire Tours France

21. UMR1253, iBrain University of Tours, INSERM Tours France

22. Excellence Center in Autism and Neurodevelopmental Disorders Centre Hospitalier Régional Universitaire Tours France

23. Department of Genetics APHP‐Robert Debré University Hospital Paris France

24. Laboratoire de Biologie Médicale Multisites SeqOIA Paris France

25. Department of Medical Genetics St. Olavs University Hospital Trondheim Norway

26. Department of Otolaryngology, Head and Neck Surgery St. Olavs University Hospital Trondheim Norway

27. Department of Neuromedicine and Movement Science Norwegian University of Science and Technology (NTNU) Trondheim Norway

Funder

Generalitat de Catalunya

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62492

Reference27 articles.

1. Downregulation of Transcription Factor LRF/ZBTB7A Increases Fetal Hemoglobin Expression in β-Thalassemia/Hemoglobin E Erythroid Cells

2. The multi-faceted functioning portrait of LRF/ZBTB7A

3. Novel BTB/POZ domain zinc-finger protein, LRF, is a potential target of the LAZ-3/BCL-6 oncogene

4. Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

5. Ellard S. Baple E. L. Berry I. Forrester N. Turnbull C. Owens M. Eccles D. M. Abbs S. Scott R. Deans Z. Lester T. Campbell J. Newman W. McMullan D. (2020).ACGS best practice guidelines for variant classification 2020.Association for Clinical Genetics Science (ACGS).https://www.acgs.uk.com/quality/best-practice-guidelines/#VariantGuidelines

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