Mutations in EZH2 Cause Weaver Syndrome

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Mutations in EZH2 Cause Weaver Syndrome William T. Gibson, Rebecca L. Hood, Shing Hei Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard Moore, Andrew J. Mungall, Patrice Eydoux, Riyana Babul-Hirji, Jianghong An, Marco A. Marra, David Chitayat, Kym M. Boycott, David D. Weaver, Steven J.M. Jones The American Journal of Human Genetics Volume 90, Issue 1, Pages 110-118 (January 2012) DOI: 10.1016/j.ajhg.2011.11.018 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Proband from Weaver et al.1 and Two Additional Probands Described in This Study Proband 1 is shown at 18 months (A), 6 years (B), 11 years (C), 17 years (D), 21 years (E), and 30 years (F, G, and H). Proband 2 is shown at age 7 years (I) and 13 years (J, K, and L). Proband 3 is shown at birth (M), 12 months (N), 24 months (O), 42 months (P), 6 years (Q), 10 years (R), 11 years (S), 16 years (T), and 19 years (U and V). Proband 3 at 8 years in a stance that shows elbow and knee contractures (W). Photos are published with the proxy consent of the parents and assent of the probands. The American Journal of Human Genetics 2012 90, 110-118DOI: (10.1016/j.ajhg.2011.11.018) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Sanger Confirmation of Sequence Variants (A) The c.457_459del mutation in Proband 1 (curly bracket) is de novo. (B) The c.2080C>T mutation in Proband 2 (arrow) is de novo. (C) The c.394C>T mutation in Proband 3 (arrow) is de novo. The American Journal of Human Genetics 2012 90, 110-118DOI: (10.1016/j.ajhg.2011.11.018) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 3 Schematic of Human EZH2 Coding exons are indicated by rectangles and noncoding exons by open rectangles. The exons are numbered starting from the exon containing the 5′ untranslated region (UTR). The putative SANT DNA-binding domain is shown in orange, the SET domain in blue, and the WD-binding domain in green. The SMART or Pfam domain identifier is presented in parentheses. Exons with no InterPro annotation are indicated in gray. The American Journal of Human Genetics 2012 90, 110-118DOI: (10.1016/j.ajhg.2011.11.018) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 4 Ribbon Model of the EZH2 SET Domain The wild-type histidine residue is shown in blue and the bulkier tyrosine in white and red. The nearby binding site of the S-Adenosylmethionine cofactor is also indicated. The American Journal of Human Genetics 2012 90, 110-118DOI: (10.1016/j.ajhg.2011.11.018) Copyright © 2012 The American Society of Human Genetics Terms and Conditions