Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Genetics in Medicine - Tập 23 - Trang 1202-1210 - 2021
Víctor Faundes1,2, Stephanie Goh3, Rhoda Akilapa4, Heidre Bezuidenhout5,6, Hans T. Bjornsson7,8, Lisa Bradley9, Angela F. Brady4, Elise Brischoux-Boucher10, Han Brunner11, Saskia Bulk12, Natalie Canham4,13, Declan Cody9, Maria Lisa Dentici14, Maria Cristina Digilio14, Frances Elmslie15, Andrew E. Fry16, Harinder Gill9, Jane Hurst17, Diana Johnson18, Sophie Julia19
1Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
2Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile
3School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
4NW Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK
5Clinical Unit of Medical Genetics and Genetic Counselling, Tygerberg Academic Hospital, Cape Town, South Africa
6Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa
7McKusick-Nathans Department of Genetic Medicine – Johns Hopkins University School of Medicine, Baltimore, MD, USA
8Faculty of Medicine, University of Iceland, Reykjavik, Iceland
9Department of Clinical Genetics, Children’s Health Ireland at Crumlin, Dublin, Ireland
10Centre de Génétique Humaine, Centre Hospitalier et Universitaire, Université de Franche-Comté, Besançon, France
11Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
12Centre de Génétique Humaine, CHU de Liège, Liège, Belgium
13Liverpool Centre for Genomic Medicine, Liverpool Women’s Hospital, Crown Street, Liverpool, UK
14Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
15SW Thames Regional Genetics Service, St George’s, University of London, London, UK
16Institute of Medical Genetics, University Hospital of Wales, , Heath Park, Cardiff, UK
17NE Thames Genetics Service, Great Ormond Street Hospital, London, UK
18Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust, Northern General Hospital, Sheffield, UK
19Departments of Pathology, Neurosurgery, Oncopediatry, Genetics and Molecular Biology, Toulouse University Hospital, Toulouse, France

Tài liệu tham khảo

Faundes Adam Ng Hannibal Issaeva Lederer Miyake Banka Hong Walport Dentici Priolo Lindsley Courcet Yoon Paderova Bogershausen Deciphering Developmental Disorders S. Richards Shpargel Margot Sobreira Aref-Eshghi Butcher Cuvertino, S. et al. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genet. Med.22, 867–877 (2020). Cocciadiferro, D., et al. Dissecting KMT2D missense mutations in Kabuki syndrome patients. Hum. Mol. Genet. 27, 3651–3668 (2018). Faundes Rosenberg Wessels Matsumoto Schrander-Stumpel Miyake White Teixeira Ming McVeigh Genevieve Gibson Michot Banka
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Genetics in Medicine

Tập 23

1202-1210

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