De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances V. Elmslie, Muriel Holder-Espinasse, Melita Irving, Anand K. Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande, Michael A. Simpson The American Journal of Human Genetics Volume 91, Issue 2, Pages 358-364 (August 2012) DOI: 10.1016/j.ajhg.2012.06.008 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Clinical Images of Individuals in whom Mutations Were Identified in MLL (A) Slim yet muscular build and the characteristic facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures. A broad nasal bridge, a wide nasal tip, and a Cupid’s bow contour to the upper lip are also seen. (B) Hypertrichosis cubiti—excessive hair growth on the extensor surface of the distal upper arm and proximal forearm (individual WSS-1). The American Journal of Human Genetics 2012 91, 358-364DOI: (10.1016/j.ajhg.2012.06.008) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Domain Structure of MLL and the Locations of the Observed Mutations The identified mutations are each predicted to cause premature termination of the protein product before the translation of the C-terminal region containing the FRYC motif, the Win motif, and the SET domain. The American Journal of Human Genetics 2012 91, 358-364DOI: (10.1016/j.ajhg.2012.06.008) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 3 Total Abundance of MLL Transcript in Primary Skin Fibroblasts from WSS-3 and the Average of Two Unrelated Healthy Controls MLL expression normalized to endogenous GAPDH and RPLO expression levels. Error bars represent SEM of three independent experiments. UHC, unrelated healthy controls. The American Journal of Human Genetics 2012 91, 358-364DOI: (10.1016/j.ajhg.2012.06.008) Copyright © 2012 The American Society of Human Genetics Terms and Conditions