期刊
NATURE GENETICS
卷 43, 期 4, 页码 306-308出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.778
关键词
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资金
- Inserm
- Fondation pour la Recherche Medicale
- Federation Francaise de Cardiologie
- Region Pays-de-la-Loire
- Direction Hospitaliere de l'Organisation des Soins (DHOS)
- bourse de releve academique de la Faculte de Biologie et Medecine de l'Universite de Lausanne
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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