Identification of CANT1 Mutations in Desbuquois Dysplasia

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Identification of CANT1 Mutations in Desbuquois Dysplasia Céline Huber, Bénédicte Oulès, Marta Bertoli, Mounia Chami, Mélanie Fradin, Yasemin Alanay, Lihadh I. Al-Gazali, Margreet G.E.M. Ausems, Pierre Bitoun, Denise P. Cavalcanti, Alexander Krebs, Martine Le Merrer, Geert Mortier, Yousef Shafeghati, Andrea Superti- Furga, Stephen P. Robertson, Carine Le Goff, Andrea Onetti Muda, Patrizia Paterlini-Bréchot, Arnold Munnich, Valérie Cormier-Daire The American Journal of Human Genetics Volume 85, Issue 5, Pages 706-710 (November 2009) DOI: 10.1016/j.ajhg.2009.10.001 Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 1 Radiological Manifestations of Desbuquois Dysplasia (A and B) Hand X-rays at 1 and 3 years of age. Note the advanced carpal ossification and the delta phalanx (arrow). (C) Hip at 3 years of age. Note the Swedish key appearance of the proximal femur. (D) Knee at 3 years of age. Note the metaphyseal irregularities. The American Journal of Human Genetics 2009 85, 706-710DOI: (10.1016/j.ajhg.2009.10.001) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 2 CANT1 Mutations Identified in Desbuquois Patients Position of the primers used for the RT-PCR. The American Journal of Human Genetics 2009 85, 706-710DOI: (10.1016/j.ajhg.2009.10.001) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 3 CANT1 mRNA Expression by RT-PCR in Desbuquois Patient Lymphocytes and Fibroblasts and in Wild-Type Chondrocytes and Osteoblasts The American Journal of Human Genetics 2009 85, 706-710DOI: (10.1016/j.ajhg.2009.10.001) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 4 Transmission Electron Microscopy in Fibroblasts from Three Desbuquois Dysplasia Patients (A–C) RER cisternae appeared markedly dilated in the vast majority of cells, in which there was an accumulation of slightly electron-dense, fibrillar, or finely granular proteinaceous material (arrows). Interestingly, there is no evidence of ribosome detachment, commonly observed in severe oxidative stress. (D) Cultured fibroblasts from healthy individuals failed to display significant enlargement of RER (arrowhead). (staining was with uranyl acetate and lead citrate; original magnification ×15,000). The American Journal of Human Genetics 2009 85, 706-710DOI: (10.1016/j.ajhg.2009.10.001) Copyright © 2009 The American Society of Human Genetics Terms and Conditions