Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
| Autor: | Sahar Mansour, Esra Asilmaz, Chong Ae Kim, Mary J Gray, William Drake, Caroline Brain, Salim Aftimos, Frances Elmslie, Michael A. Simpson, Richard C. Trembath, Melita Irving, Stephen P. Robertson, Muriel Holder-Espinasse, Sue E Holder, Katherine H. Kim, Barbara K. Burton, Dimitra Dafou, Richard M. Pauli, Helen Stewart |
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| Rok vydání: | 2011 |
| Předmět: |
Male
medicine.medical_specialty DNA Complementary Hajdu–Cheney syndrome DNA Mutational Analysis Notch signaling pathway Protein Sorting Signals Biology Hajdu-Cheney Syndrome medicine.disease_cause Exon Internal medicine Genetics medicine Humans Base sequence Receptor Notch2 Allele Alleles Mutation Base Sequence Exons medicine.disease Pedigree Osteopenia Endocrinology Female Mutant Proteins |
| Zdroj: | Nature Genetics. 43:303-305 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng.779 |
| Popis: | We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling. |
| Databáze: | OpenAIRE |
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