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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Identification of CANT1 Mutations in Desbuquois Dysplasia
American Journal of Human Genetics, Volume 85, No. 5, Year 2009
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Description
Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), which encodes a soluble UDP-preferring nucleotidase belonging to the apyrase family. Among the seven mutations, four were nonsense mutations (Del 5′ UTR and exon 1, p.P245RfsX3, p.S303AfsX20, and p.W125X), and three were missense mutations (p.R300C, p.R300H, and p.P299L) responsible for the change of conserved amino acids located in the seventh nucleotidase conserved region (NRC). The arginine substitution at position 300 was identified in five out of nine families. The specific function of CANT1 is as yet unknown, but its substrates are involved in several major signaling functions, including Ca2+ release, through activation of pyrimidinergic signaling. Importantly, using RT-PCR analysis, we observed a specific expression in chondrocytes. We also found electron-dense material within distended rough endoplasmic reticulum in the fibroblasts of Desbuquois patients. Our findings demonstrate the specific involvement of a nucleotidase in the endochondral ossification process. © 2009 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC2775828/bin/mmc1.pdf
Authors & Co-Authors
Huber, Céline
France, Paris
Université Paris Cité
Oulès, Bénédicte
France, Paris
Université Paris Cité
Bertoli, Marta
France, Paris
Université Paris Cité
Chami, M.
France, Paris
Université Paris Cité
Italy, Genoa
Istituto Italiano Di Tecnologia
Fradin, Mélanie
France, Paris
Université Paris Cité
Alanay, Yasemin
Turkey, Ankara
Hacettepe Üniversitesi
Al-Gazali, Lihadh I.
United Arab Emirates, Al Ain
United Arab Emirates University
Ausems, Margreet G.E.M.
Netherlands, Utrecht
University Medical Center Utrecht
Bitoun, P.
France, Bondy
Hopital Jean-verdier
Cavalcanti, Denise P.
Brazil, Campinas
Universidade Estadual de Campinas
Krebs, Alexander
Austria, Vienna
Orthopedic Hospital Speising
Le Merrer, Martine F.
France, Paris
Université Paris Cité
Mortier, Geert R.
Belgium, Ghent
Universitair Ziekenhuis Gent
Shafeghati, Yousef
Iran, Tehran
Sarem Hospital
Superti-Furga, Andrea
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Robertson, Stephen P.
New Zealand, Dunedin
Otago Medical School
Le Goff, Carine
France, Paris
Université Paris Cité
Muda, Andrea Onetti
Unknown Affiliation
Paterlini-Bréchot, Patrizia
France, Paris
Université Paris Cité
Münnich, Arnold
France, Paris
Université Paris Cité
Cormier-Dairé, Valeŕie
France, Paris
Université Paris Cité
Statistics
Citations: 86
Authors: 21
Affiliations: 12
Identifiers
Doi:
10.1016/j.ajhg.2009.10.001
ISSN:
00029297
Research Areas
Genetics And Genomics