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

Détails

ID Serval
serval:BIB_5325CAB11B13
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Périodique
Nature Genetics
Auteur⸱e⸱s
Isidor B., Lindenbaum P., Pichon O., Bézieau S., Dina C., Jacquemont S., Martin-Coignard D., Thauvin-Robinet C., Le Merrer M., Mandel J.L., David A., Faivre L., Cormier-Daire V., Redon R., Le Caignec C.
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Statut éditorial
Publié
Date de publication
2011
Volume
43
Numéro
4
Pages
306-308
Langue
anglais
Résumé
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.
Pubmed
Web of science
Création de la notice
18/04/2011 15:19
Dernière modification de la notice
20/08/2019 14:08
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