Article
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Nature genetics - 6 Mar 2011
Isidor Bertrand, Lindenbaum Pierre, Pichon Olivier, Bézieau Stéphane, Dina Christian, Jacquemont Sébastien, Martin-Coignard Dominique, Thauvin-Robinet Christel, Le Merrer Martine, Mandel Jean-Louis, David Albert, Faivre Laurence, Cormier-Daire Valérie, Redon Richard, Le Caignec Cédric
Abstract excerpt
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...
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