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- Title
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
- Authors
Simpson, Michael A; Irving, Melita D; Asilmaz, Esra; Gray, Mary J; Dafou, Dimitra; Elmslie, Frances V; Mansour, Sahar; Holder, Sue E; Brain, Caroline E; Burton, Barbara K; Kim, Katherine H; Pauli, Richard M; Aftimos, Salim; Stewart, Helen; Kim, Chong Ae; Holder-Espinasse, Muriel; Robertson, Stephen P; Drake, William M; Trembath, Richard C
- Abstract
We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.
- Publication
Nature genetics, 2011, Vol 43, Issue 4, p303
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.779