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Nat Genet. 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.

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  • 1Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London, UK.

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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PMID:
21378985
[PubMed - indexed for MEDLINE]
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