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Goodman et al. J Transl Genet Genom 2020;4:144-58 Journal of Translational
DOI: 10.20517/jtgg.2020.23 Genetics and Genomics

Original Article Open Access

EHMT1 pathogenic variants and 9q34.3
microdeletions share altered DNA methylation

patterns in patients with Kleefstra syndrome

Sarah J. Goodman , Cheryl Cytrynbaum 1,2,3 , Brian Hon-Yin Chung , Eric Chater-Diehl , Celine Aziz Andrei
1,
1
1
4
L. Turinsky , Barbara Kellam , Melanie Keller , Jung Min Ko , Oana Caluseriu , Daria Grafodatskaya ,
6
8
9
7
10
1,5
Elizabeth McCready , Renee Perrier , Kit San Yeung , Luk Ho-Ming , Jerry Machado , Michael
7
10
4
11
12
Brudno 1,6,13 , D. James Stavropoulos 14,15 , Stephen W. Scherer 1,3,6,16 , A. Micheil Innes , Sau Wei Cheung ,
18
7,17
Sanaa Choufani , Rosanna Weksberg 1,2,3,19
1
1 Genetics and Genome Biology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
2 Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
3 Department of Molecular Genetics, University of Toronto, Toronto, ON M5S, Canada.
4 Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
5 Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
6 The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
7 Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.
8 Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul
03080, Korea.
9 Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada.
10 Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada.
11 Clinical Genetic Service, Department of Health, Hong Kong, China.
12 PreventionGenetics, Marshfield, WI 54449, USA.
13 Department of Computer Science, University of Toronto, Toronto, ON M5S, Canada.
14 Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
15 Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON M5S, Canada.
16 McLaughlin Centre, University of Toronto, Toronto, ON M5S, Canada.
17 Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4,
Canada.
18 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
19 Institute of Medical Science, University of Toronto, Toronto, ON M5S, Canada.
Correspondence to: Dr. Rosanna Weksberg, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555
University Ave, Toronto, ON M5G 1X8, Canada. E-mail: rweksb@sickkids.ca
How to cite this article: Goodman SJ, Cytrynbaum C, Chung BHY, Chater-Diehl E, Aziz C, Turinsky AL, Kellam B, Keller M, Ko JM,
Caluseriu O, Grafodatskaya D, McCready E, Perrier R, Yeung KS, Ho-Ming L, Machado J, Brudno M, Stavropoulos DJ, Scherer
SW, Innes AM, Cheung SW, Choufani S, Weksberg R. EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA
methylation patterns in patients with Kleefstra syndrome. J Transl Genet Genom 2020;4:144-58.
http://dx.doi.org/10.20517/jtgg.2020.23
Received: 12 Mar 2020 First Decision: 14 Apr 2020 Revised: 23 Apr 2020 Accepted: 20 May 2020 Published: 18 Jun 2020
Science Editor: Tjitske Kleefstra Copy Editor: Cai-Hong Wang Production Editor: Jing Yu

© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
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