Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
Nature genetics, 2011•nature.com
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.
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.
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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