Todor Arsov, Katherine R

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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 Todor Arsov, Katherine R. Smith, John Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J. Bromhead, Eva Andermann, Danya F. Vears, Patrick Cossette, Sulekha Rajagopalan, Alan McDougall, Vito Sofia, Michael Farrell, Umberto Aguglia, Andrea Zini, Stefano Meletti, Michela Morbin, Saul Mullen, Frederick Andermann, Sara E. Mole, Melanie Bahlo, Samuel F. Berkovic The American Journal of Human Genetics Volume 88, Issue 5, Pages 566-573 (May 2011) DOI: 10.1016/j.ajhg.2011.04.004 Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 1 Kufs Disease Pedigrees and CLN6 Mutational Status (A) Mapping the set of four families with the mutant allele described with the symbol “m” and with different mutations indicated by varying superscripts. (B) Four pedigrees from the validation set with the mutations shown. The p.Ser308Thr variant in Ku8 (also found in one control) and the p.Ala34Thr variant in Ku12 are not shown. The American Journal of Human Genetics 2011 88, 566-573DOI: (10.1016/j.ajhg.2011.04.004) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 2 LOD Scores Obtained by Four Individual Families in the Mapping Set and the Combined hLOD Score Across Chromosome 15 The American Journal of Human Genetics 2011 88, 566-573DOI: (10.1016/j.ajhg.2011.04.004) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 3 Overlap of the Critical Regions on Chromosome 15 from the Four Families in the Mapping Set The darker the rectangle is, the greater the contribution of this family to the LOD score. The American Journal of Human Genetics 2011 88, 566-573DOI: (10.1016/j.ajhg.2011.04.004) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 4 Schematic Representation of CLN6 with Mutations The numbered blue boxes represent each exon. The numbers below each exon represent the amino acid number within the CLN6 protein. The symbols above, colored in red, are mutations reported here for Kufs disease. The grey symbols below are previously described mutations in CLN6 in variant late-infantile NCL (NCL Resource—A Gateway for Batten Disease). The black arrow indicates the mutation described in both phenotypes. The American Journal of Human Genetics 2011 88, 566-573DOI: (10.1016/j.ajhg.2011.04.004) Copyright © 2011 The American Society of Human Genetics Terms and Conditions