Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
Copyright policy )Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
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.
- French National Centre for Scientific Research France
- Institut du Thorax France
- University of Paris France
- UNIVERSITE PARIS DESCARTES France
- Inserm France
Adult, Male, Heterozygote, Adolescent, Base Sequence, Molecular Sequence Data, DNA, Exons, Middle Aged, Hajdu-Cheney Syndrome, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Pedigree, Rare Diseases, Codon, Nonsense, Child, Preschool, Mutation, Humans, Female, Amino Acid Sequence, Receptor, Notch2, Frameshift Mutation
Adult, Male, Heterozygote, Adolescent, Base Sequence, Molecular Sequence Data, DNA, Exons, Middle Aged, Hajdu-Cheney Syndrome, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Pedigree, Rare Diseases, Codon, Nonsense, Child, Preschool, Mutation, Humans, Female, Amino Acid Sequence, Receptor, Notch2, Frameshift Mutation
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