Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum Lina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman,

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Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum Lina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman, Miquel Raspall-Chaure, Naseebullah Kakar, Pola Smirin-Yosef, Marta Vila-Pueyo, Liora Kornreich, Holger Thiele, Harald Bode, Irina Lagovsky, Dvir Dahary, Ami Haviv, Monika Weisz Hubshman, Metsada Pasmanik- Chor, Peter Nürnberg, Doron Gothelf, Christian Kubisch, Mordechai Shohat, Alfons Macaya, Guntram Borck The American Journal of Human Genetics Volume 93, Issue 3, Pages 524-529 (September 2013) DOI: 10.1016/j.ajhg.2013.07.005 Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees and Pictures of Individuals with EOEE (A and B) Pedigrees of family 1 (A) and family 2 (B). Individuals affected or likely affected by EOEE are represented by filled black and gray symbols, respectively. The index individuals are depicted by arrows. The plus sign (+) denotes the reference sequence, and “mut” indicates the respective mutation. Red “mut” represents the c.73C>T (p.Arg25∗) nonsense mutation, blue “mut” represents the c.1496G>T exonic splice-site mutation, and green “mut” represents the c.2092C>T (p.Gln698∗) nonsense mutation. (C) Individual 1 at the age of 10 years (left) and individual 2 at the age of 9 years (right). Common facial dysmorphic features include a high forehead, downslanting palpebral fissures, ptosis, and arched and laterally extended eyebrows. The American Journal of Human Genetics 2013 93, 524-529DOI: (10.1016/j.ajhg.2013.07.005) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 2 Brain MRI Findings Persistent cavum septum pellucidum (arrows) and thick and short corpus callosum (arrowheads) in the three affected children. (A and E) Individual II-5 at the age of 6 months. (B, C, F and G) Individual II-6 (individual 1) at the ages of 7 months (B and F) and 4 years and 8 months (C and G). (D and H) Individual 2 at the age of 2 years. The American Journal of Human Genetics 2013 93, 524-529DOI: (10.1016/j.ajhg.2013.07.005) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 3 SZT2 Mutations (A) Homozygous nonsense mutation c.73C>T (p.Arg25∗) detected in individual 1. (B) Compound-heterozygous mutation c.2092C>T (p.Gln698∗) (left) and c.1496G>T (right) identified in individual 2. (C) RT-PCR on total RNA extracted from the blood of individual 2 and a control shows that the c.1496G>T exonic splice-site mutation leads to the skipping of exon 10. The American Journal of Human Genetics 2013 93, 524-529DOI: (10.1016/j.ajhg.2013.07.005) Copyright © 2013 The American Society of Human Genetics Terms and Conditions