Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino- Terminal Transcriptional Activation Domain of MAFB Andreas Zankl,

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Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino- Terminal Transcriptional Activation Domain of MAFB Andreas Zankl, Emma L. Duncan, Paul J. Leo, Graeme R. Clark, Evgeny A. Glazov, Marie-Claude Addor, Troels Herlin, Chong Ae Kim, Bruno P. Leheup, Jim McGill, Steven McTaggart, Stephan Mittas, Anna L. Mitchell, Geert R. Mortier, Stephen P. Robertson, Marie Schroeder, Paulien Terhal, Matthew A. Brown The American Journal of Human Genetics Volume 90, Issue 3, Pages 494-501 (March 2012) DOI: 10.1016/j.ajhg.2012.01.003 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Typical Clinical and Radiographic Appearance of MCTO (A) Complete destruction of carpal bones with relatively well-preserved metacarpals and phalanges (individual 17.3). (B) Hand X-rays of individual 15.3 at (a) 3, (b) 8, and (c) 10 years old, respectively. Note the absence of carpal bones and progressive osteolysis of proximal end of metacarpal bones, whereas the distal end and the phalanges remain relatively well preserved. The American Journal of Human Genetics 2012 90, 494-501DOI: (10.1016/j.ajhg.2012.01.003) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Sanger Sequencing and Comparative Genomics of MAFB (Upper panel) Sanger sequencing of MAFB, demonstrating mutations in all 11 simplex cases with MCTO. Labels in bold refer to the original five probands sequenced with NGS. (Lower panel) Protein coding and comparative genomics of MAFB (derived from UCSC genome browser). The American Journal of Human Genetics 2012 90, 494-501DOI: (10.1016/j.ajhg.2012.01.003) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 3 Sanger Sequencing and Family Trees for Families 82 and 83 (A) Family 82. (B) Family 83. Black indicates known affected and white indicates known unaffected; a question mark indicates unknown status. The American Journal of Human Genetics 2012 90, 494-501DOI: (10.1016/j.ajhg.2012.01.003) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 4 Schematic picture of MafB, showing protein domains and positions of the observed mutations in individuals and families with MCTO The American Journal of Human Genetics 2012 90, 494-501DOI: (10.1016/j.ajhg.2012.01.003) Copyright © 2012 The American Society of Human Genetics Terms and Conditions