Ontology highlight
ABSTRACT:
SUBMITTER: Huber C
PROVIDER: S-EPMC2775828 | biostudies-other | 2009 Nov
REPOSITORIES: biostudies-other
Huber Céline C Oulès Bénédicte B Bertoli Marta M Chami Mounia M Fradin Mélanie M Alanay Yasemin Y Al-Gazali Lihadh I LI Ausems Margreet G E M MG Bitoun Pierre P Cavalcanti Denise P DP Krebs Alexander A Le Merrer Martine M Mortier Geert G Shafeghati Yousef Y Superti-Furga Andrea A Robertson Stephen P SP Le Goff Carine C Muda Andrea Onetti AO Paterlini-Bréchot Patrizia P Munnich Arnold A Cormier-Daire Valérie V
American journal of human genetics 20091022 5
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 w ...[more]