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

doi:10.1038/ng.779

. 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

Affiliations

PMID: 21378985
DOI: 10.1038/ng.779

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

Michael A Simpson et al. Nat Genet. 2011.

. 2011 Mar 6;43(4):303-5.

doi: 10.1038/ng.779.

Affiliation

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

PMID: 21378985
DOI: 10.1038/ng.779

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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Comment in

Genetics: New data on Hajdu-Cheney syndrome turns up bone research a NOTCH.
Heath V. Heath V. Nat Rev Endocrinol. 2011 Jun;7(6):311. doi: 10.1038/nrendo.2011.60. Epub 2011 Apr 19. Nat Rev Endocrinol. 2011. PMID: 21502983 No abstract available.
A step forward on the path towards understanding osteoporosis.
Fisher E. Fisher E. Clin Genet. 2011 Aug;80(2):136-7. doi: 10.1111/j.1399-0004.2011.01702.x. Epub 2011 Jun 13. Clin Genet. 2011. PMID: 21564092 No abstract available.

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References

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[1] Science. 2004 Oct 8;306(5694):269-71 - PubMed

[2] Science. 2004 Oct 8;306(5694):269-71 - PubMed

[3] Hum Mol Genet. 2001 Feb 15;10(4):405-13 - PubMed

[4] Hum Mol Genet. 2001 Feb 15;10(4):405-13 - PubMed

[5] Am J Hum Genet. 2006 Jul;79(1):169-73 - PubMed

[6] Am J Hum Genet. 2006 Jul;79(1):169-73 - PubMed

[7] Clin Dysmorphol. 2007 Jan;16(1):27-33 - PubMed

[8] Clin Dysmorphol. 2007 Jan;16(1):27-33 - PubMed

[9] Am J Med Genet. 2001 May 15;100(4):292-310 - PubMed

[10] Am J Med Genet. 2001 May 15;100(4):292-310 - PubMed

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

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

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