Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures Slavé Petrovski, Sébastien Küry, Candace T. Myers,

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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane-Yeboa, Benjamin Cogné, Martin Bialer, Fan Xia, Parisa Hemati, James Riviello, Michele Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding-Byth, Amy L. Schneider, Geoffrey Wallace, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa Grebe, Alice Basinger, Joanne M. Nguyen, Stéphane Bézieau, Klaas Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein The American Journal of Human Genetics Volume 98, Issue 5, Pages 1001-1010 (May 2016) DOI: 10.1016/j.ajhg.2016.03.011 Copyright © 2016 The American Society of Human Genetics Terms and Conditions

Figure 1 Localization of GNB1 Mutations (A) The distribution of the 13 mutations across GNB1 (GenBank: NM_002074.4) shows a preferential enrichment of de novo mutations affecting exon 6. cd0020 represents the WD40 domain of GNB1. (B) Molecular representation of a heterotrimeric G protein (Gα, white; Gβ, green; Gγ, blue) is based on a crystal structure (PDB: ID 1GP2; DOI: http://dx.doi.org/10.2210/pdb1gp2/pdb).28 The Gβ side chains of the four residues affecting a single subject are indicated in yellow, whereas the three recurrently affected residues are indicated in red. The American Journal of Human Genetics 2016 98, 1001-1010DOI: (10.1016/j.ajhg.2016.03.011) Copyright © 2016 The American Society of Human Genetics Terms and Conditions