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. 2011 Mar 6;43(4):303-5.
doi: 10.1038/ng.779.

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A Simpson  1 , Melita D Irving, Esra Asilmaz, Mary J Gray, Dimitra Dafou, Frances V Elmslie, Sahar Mansour, Sue E Holder, Caroline E Brain, Barbara K Burton, Katherine H Kim, Richard M Pauli, Salim Aftimos, Helen Stewart, Chong Ae Kim, Muriel Holder-Espinasse, Stephen P Robertson, William M Drake, Richard C Trembath
Affiliations

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A Simpson et al. Nat Genet. .

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.

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References

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