Presentation is loading. Please wait.

Presentation is loading. Please wait.

Identification of CANT1 Mutations in Desbuquois Dysplasia

Published byCécile Brisson Modified over 5 years ago

Similar presentations

Presentation on theme: "Identification of CANT1 Mutations in Desbuquois Dysplasia"— Presentation transcript:

1 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 (November 2009) DOI: /j.ajhg Copyright © 2009 The American Society of Human Genetics Terms and Conditions

2 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  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

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

4 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  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

5 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  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Download ppt "Identification of CANT1 Mutations in Desbuquois Dysplasia"

Similar presentations

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G.
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,
Recurrent Lupus nephritis in the Second Allograft of a Patient with Systemic Lupus erythematosus Nephron 2002;92:947–949 - DOI:10.1159/000065458 Fig.

Recurrent Lupus nephritis in the Second Allograft of a Patient with Systemic Lupus erythematosus Nephron 2002;92:947–949 - DOI: / Fig.
Reduced Tumor Necrosis Factor-α and Transforming Growth Factor-β1 Expression in the Lungs of Inbred Mice that Fail to Develop Fibroproliferative Lesions.

Reduced Tumor Necrosis Factor-α and Transforming Growth Factor-β1 Expression in the Lungs of Inbred Mice that Fail to Develop Fibroproliferative Lesions.
Karin Hartmann, Metin Artuc, Stephan E. Baldus, Thomas K

Karin Hartmann, Metin Artuc, Stephan E. Baldus, Thomas K
TCTN3 Mutations Cause Mohr-Majewski Syndrome

TCTN3 Mutations Cause Mohr-Majewski Syndrome
The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1  Dan Hanson, Philip G. Murray, Amit Sud, Samia A.

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1  Dan Hanson, Philip G. Murray, Amit Sud, Samia A.
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias  Carine Le Goff, Clémentine Mahaut,

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias  Carine Le Goff, Clémentine Mahaut,
Quiz Page June 2007 American Journal of Kidney Diseases

Quiz Page June 2007 American Journal of Kidney Diseases
Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and.

Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and.
Paraneoplastic glomerulopathies: New insights into an old entity

Paraneoplastic glomerulopathies: New insights into an old entity
Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo- Megaepiphyseal-Metaphyseal Dysplasia  Jan Hellemans, Marleen Simon, Annelies Dheedene,

Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo- Megaepiphyseal-Metaphyseal Dysplasia  Jan Hellemans, Marleen Simon, Annelies Dheedene,
Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome  Caroline Lefèvre, Florence.

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome  Caroline Lefèvre, Florence.

Similar presentations

Ads by Google