Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2-Reference-Cited by-同舟云学术

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Published:2016-07-07 Issue:9 Volume:37 Page:847-864
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bögershausen Nina¹,Gatinois Vincent²³⁴,Riehmer Vera⁵,Kayserili Hülya⁶,Becker Jutta⁵,Thoenes Michaela⁵,Simsek-Kiper Pelin Özlem⁷,Barat-Houari Mouna²⁴,Elcioglu Nursel H.⁸,Wieczorek Dagmar⁹,Tinschert Sigrid¹⁰¹¹,Sarrabay Guillaume²³⁴,Strom Tim M.¹²¹³,Fabre Aurélie²,Baynam Gareth¹⁴¹⁵¹⁶¹⁷,Sanchez Elodie⁴,Nürnberg Gudrun¹⁸,Altunoglu Umut¹⁹,Capri Yline²⁰,Isidor Bertrand²¹,Lacombe Didier²²,Corsini Carole³⁴²³,Cormier-Daire Valérie²⁴²⁵,Sanlaville Damien²⁶,Giuliano Fabienne²⁷,Le Quan Sang Kim-Hanh²⁴,Kayirangwa Honorine²⁴,Nürnberg Peter¹⁸,Meitinger Thomas¹²¹³,Boduroglu Koray⁷,Zoll Barbara¹,Lyonnet Stanislas²⁴²⁵,Tzschach Andreas¹⁰,Verloes Alain²⁰,Di Donato Nataliya¹⁰,Touitou Isabelle²³⁴,Netzer Christian⁵,Li Yun¹,Geneviève David³⁴²³,Yigit Gökhan¹,Wollnik Bernd¹

Affiliation:

1. Institute of Human Genetics; University Medical Center Goettingen; Goettingen Germany

2. Laboratory of Rare and Autoinflammatory Diseases; CHU Montpellier; Montpellier France

3. University of Montpellier; Montpellier France

4. INSERM UMR1183; Montpellier France

5. Institute of Human Genetics; University of Cologne; Cologne Germany

6. Medical Genetics Department; Koç University School of Medicine (KUSOM); Istanbul Turkey

7. Pediatric Genetics Unit; Department of Pediatrics; Hacettepe University Medical Faculty; Ankara Turkey

8. Department of Pediatric Genetics; Marmara University Medical Faculty; Istanbul Turkey

9. Institute of Human Genetics; University of Duesseldorf; Duesseldorf Germany

10. Institute for Clinical Genetics; Faculty of Medicine Carl Gustav Carus; Technische Universität Dresden; Germany

11. Zentrum für Humangenetik; Medizinische Universität; Innsbruck Austria

12. Institute of Human Genetics; Technische Universität München; Munich Germany

13. Institute of Human Genetics; Helmholtz Zentrum München; Neuherberg Germany

14. Genetic Services of Western Australia; Princess Margaret and King Edward Memorial Hospitals; Perth Australia

15. Western Australian Register of Developmental Anomalies; Perth Australia

16. Telethon Kids Institute; Perth Australia

17. School of Paediatrics and Child Health; University of Western Australia; Perth Australia

18. Cologne Center for Genomics; University of Cologne; Cologne Germany

19. Department of Medical Genetics; Istanbul Medical Faculty; Istanbul University; Istanbul Turkey

20. Department of Genetics; APHP-Robert DEBRE University Hospital, Paris VII University; Denis Diderot Medical School; Paris France

21. Department of Genetics; Nantes University Hospital; Nantes France

22. Department of Medical Genetics; Bordeaux University, CHU Bordeaux; INSERM U1211 Bordeaux France

23. Department of Medical Genetics; Reference Center for Developmental Abnormalities; CHU; Montpellier France

24. Institut Imagine; Paris Descartes-Sorbonne Paris Cité University; INSERM U1163 Paris France

25. Service de Génétique; Hôpital Universitaire Necker-Enfants Malades; Assistance Publique - Hôpitaux de Paris; Paris France

26. HCL Genetic Department; INSERM U1028 CNRS UMR 5292; UCBL1, CRNL, GENDEV Team Lyon France

27. Department of Medical Genetics; l'Archet II Hospital; Nice France

Funder

German Federal Ministry of Education and Research

French Ministry of Health

Fondation Maladies Rares

French Kabuki Association

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference66 articles.

1. UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development;Agger;Nature,2007

2. MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome;Banka;Clin Genet,2013

3. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2);Banka;Clin Genet,2015

4. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum;Banka;Eur J Hum Genet,2012

5. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome;Bögershausen;J Clin Invest,2015

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