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. 2011 Mar 6;43(4):306-8.
doi: 10.1038/ng.778.

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Bertrand Isidor  1 , Pierre Lindenbaum, Olivier Pichon, Stéphane Bézieau, Christian Dina, Sébastien Jacquemont, Dominique Martin-Coignard, Christel Thauvin-Robinet, Martine Le Merrer, Jean-Louis Mandel, Albert David, Laurence Faivre, Valérie Cormier-Daire, Richard Redon, Cédric Le Caignec
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Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

Bertrand Isidor et al. Nat Genet. .

Abstract

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder with facial anomalies, osteoporosis and acro-osteolysis. We sequenced the exomes of six unrelated individuals with this syndrome and identified heterozygous nonsense and frameshift mutations in NOTCH2 in five of them. All mutations cluster to the last coding exon of the gene, suggesting that the mutant mRNA products escape nonsense-mediated decay and that the resulting truncated NOTCH2 proteins act in a gain-of-function manner.

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References

    1. Science. 2004 Oct 8;306(5694):269-71 - PubMed
    1. Am J Med Genet. 2001 May 15;100(4):292-310 - PubMed
    1. Nat Genet. 1997 Jul;16(3):243-51 - PubMed
    1. Nat Med. 2008 Mar;14(3):299-305 - PubMed
    1. Am J Hum Genet. 2006 Jul;79(1):169-73 - PubMed

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