Article
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
Nature genetics - 6 Mar 2011
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 excerpt
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...
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