A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter– Tonz Syndrome Adi Mory, Efrat Dagan, Barbara Illi, Philippe Duquesnoy,

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A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter– Tonz Syndrome Adi Mory, Efrat Dagan, Barbara Illi, Philippe Duquesnoy, Shikma Mordechai, Ishai Shahor, Sveva Romani, Nivin Hawash-Moustafa, Hanna Mandel, Enza M. Valente, Serge Amselem, Ruth Gershoni-Baruch The American Journal of Human Genetics Volume 90, Issue 4, Pages 708-714 (April 2012) DOI: 10.1016/j.ajhg.2012.03.005 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Families 1–5 Haplotypes and the c.469C>T Mutation in Exon 7 of ROGDI (A) Disease-associated haplotypes are shown in boxes. Markers 1 and rs3760030 define the minimal homozygosity locus associated with the disease (allele 0: not genotyped). The numbers flanking the genotyped markers indicate the distance from 16pter (GRCh37/hg19 assembly). (B) The ROGDI c.469C>T (p.Arg157∗) mutation in genomic DNA of a KTS-affected individual compared to a control. The American Journal of Human Genetics 2012 90, 708-714DOI: (10.1016/j.ajhg.2012.03.005) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Subcellular Localization of ROGDI in Transfected HEK 293 Cells and Blood Mononuclear Cells (A–F) The immunostaining of ROGDI-transfected HEK 293 cells was performed with a ROGDI polyclonal antibody incubated in the presence of a permeabilizing reagent (0.2% saponin). ROGDI labeling (A) was revealed with an Alexa Fluor-488 goat anti-rabbit secondary antibody (green). Nuclei (B) were stained with DAPI (blue). The merged picture (C) shows the ROGDI-antibody staining (green) together with nuclei staining (blue). As a control, the same experiment was performed with the secondary antibody in the absence of ROGDI antibody (D, E, and F). (G–R) The same ROGDI antibody was used for immunolocalization of native ROGDI in blood mononuclear cells (green signal in G, K, and O). Colabeling was performed with a LAMIN A monoclonal antibody (red signal in H, L, and P). Nuclei (I, M, and Q) were stained with DAPI (blue). The partial colocalization of ROGDI with LAMIN A is shown in (J), (N), and (R). Cells were observed by confocal microscopy. Three cell sections from the middle to the top of cells are shown (G–J, K–N, and O–R, respectively). White scale bars represent 10μm. The American Journal of Human Genetics 2012 90, 708-714DOI: (10.1016/j.ajhg.2012.03.005) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 3 Immunostaining in Dermal Fibroblasts and Immunoblot Analysis from a KTS-Affected Individual and a Control (A–F) Double immunostaining of LAMIN A and ROGDI in control (A–C) and KTS (D–F) fibroblasts (II-1 in family 1). LAMIN A (green) and ROGDI (red) were labeled with specific antibodies. Merged images are shown in (C) and (F). (G) Immunoblot shows absence of ROGDI in Epstein-Barr virus (EBV)-transformed lymphoblasts from affected individuals compared to controls. Lanes 1 and 2 show EBV-transformed lymphoblasts of controls. Lanes 3 and 4 display EBV-transformed lymphoblasts from affected individuals (II-1 in family 1; V-8 in family 4). The upper bands indicate a molecular weight of ∼32 kDa. Tubulin was used as a loading control. The American Journal of Human Genetics 2012 90, 708-714DOI: (10.1016/j.ajhg.2012.03.005) Copyright © 2012 The American Society of Human Genetics Terms and Conditions