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Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen, Klaske D

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1 De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment 
Maja Hempel, Kirsten Cremer, Charlotte W. Ockeloen, Klaske D. Lichtenbelt, Johanna C. Herkert, Jonas Denecke, Tobias B. Haack, Alexander M. Zink, Jessica Becker, Eva Wohlleber, Jessika Johannsen, Bader Alhaddad, Rolph Pfundt, Sigrid Fuchs, Dagmar Wieczorek, Tim M. Strom, Koen L.I. van Gassen, Tjitske Kleefstra, Christian Kubisch, Hartmut Engels, Davor Lessel  The American Journal of Human Genetics  Volume 97, Issue 3, Pages (September 2015) DOI: /j.ajhg Copyright © 2015 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Facial Phenotype of Individuals with CHAMP1-Associated Disorder Facial images of individual A:II-1 at age 4 years (A), individual B:II-3 at the age of 12 months and 6 years (B), individual C:II-2 from the age of 6 till 18 years (C), individual D:II-2 at birth and at age 3 years (D), and individual E:II-2 at the age 4 and 9 years (E). Note the long face, orofacial hypotonia, epicanthic folds, upslanting palpebral fissures, short philtrum, thin and tented upper lip and everted lower lip, pointed chin, and deep-set ears. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Schematic Protein Structure of CHAMP1
The positions of the de novo mutations identified in this study are marked with vertical arrows and are shown in red; mutations identified in the Deciphering Developmental Disorders study are shown in black. Abbreviations are as follows: ZnF, zinc-finger domain; N, N terminus; C, C terminus. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

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