p.R270X MECP2 mutation and mortality in Rett syndrome
Among cases in the Australian Rett Syndrome Database, the nonsense mutation p.R270X is one of the most commonly occurring single pathogenic MECP2 mutations. In two recent published reports of the MECP2 mutational spectrum the p.R270X appeared to be under represented. We hypothesised that increased m...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Journal Article |
| Published: |
Nature Publishing Group
2005
|
| Subjects: | |
| Online Access: | http://hdl.handle.net/20.500.11937/17865 |
| _version_ | 1848749581721927680 |
|---|---|
| author | Jian, Le Archer, H. Ravine, D. Kerr, A. De Klerk, N. Christodoulou, J. Bailey, M. |
| author_facet | Jian, Le Archer, H. Ravine, D. Kerr, A. De Klerk, N. Christodoulou, J. Bailey, M. |
| author_sort | Jian, Le |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Among cases in the Australian Rett Syndrome Database, the nonsense mutation p.R270X is one of the most commonly occurring single pathogenic MECP2 mutations. In two recent published reports of the MECP2 mutational spectrum the p.R270X appeared to be under represented. We hypothesised that increased mortality arising from this mutation may underlie this apparent discrepancy. We investigated our hypothesis in two independent study groups from Australia and the UK with prospective data collections (total n=524). Only females with Rett syndrome and an identified MECP2 mutation were included. Significant differences in survival were detected among Rett syndrome cases grouped for the eight most frequent mutations (log-rank v2 (7)=15.71, P=0.03). Moreover, survival among cases with p.R270X, when compared with survival among cases with all the other mutations was reduced (log-rank v2 (2)=6.94, P=0.01). Our observation of a reduced survival associated with the p.R270X mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome. |
| first_indexed | 2025-11-14T07:23:13Z |
| format | Journal Article |
| id | curtin-20.500.11937-17865 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T07:23:13Z |
| publishDate | 2005 |
| publisher | Nature Publishing Group |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-178652017-09-13T15:44:54Z p.R270X MECP2 mutation and mortality in Rett syndrome Jian, Le Archer, H. Ravine, D. Kerr, A. De Klerk, N. Christodoulou, J. Bailey, M. Rett syndrome MECP2 mutations p.R270X mortality Among cases in the Australian Rett Syndrome Database, the nonsense mutation p.R270X is one of the most commonly occurring single pathogenic MECP2 mutations. In two recent published reports of the MECP2 mutational spectrum the p.R270X appeared to be under represented. We hypothesised that increased mortality arising from this mutation may underlie this apparent discrepancy. We investigated our hypothesis in two independent study groups from Australia and the UK with prospective data collections (total n=524). Only females with Rett syndrome and an identified MECP2 mutation were included. Significant differences in survival were detected among Rett syndrome cases grouped for the eight most frequent mutations (log-rank v2 (7)=15.71, P=0.03). Moreover, survival among cases with p.R270X, when compared with survival among cases with all the other mutations was reduced (log-rank v2 (2)=6.94, P=0.01). Our observation of a reduced survival associated with the p.R270X mutation offers an explanation for the under representation of p.R270X in older subjects with Rett syndrome. 2005 Journal Article http://hdl.handle.net/20.500.11937/17865 10.1038/sj.ejhg.5201479 Nature Publishing Group unknown |
| spellingShingle | Rett syndrome MECP2 mutations p.R270X mortality Jian, Le Archer, H. Ravine, D. Kerr, A. De Klerk, N. Christodoulou, J. Bailey, M. p.R270X MECP2 mutation and mortality in Rett syndrome |
| title | p.R270X MECP2 mutation and mortality in Rett syndrome |
| title_full | p.R270X MECP2 mutation and mortality in Rett syndrome |
| title_fullStr | p.R270X MECP2 mutation and mortality in Rett syndrome |
| title_full_unstemmed | p.R270X MECP2 mutation and mortality in Rett syndrome |
| title_short | p.R270X MECP2 mutation and mortality in Rett syndrome |
| title_sort | p.r270x mecp2 mutation and mortality in rett syndrome |
| topic | Rett syndrome MECP2 mutations p.R270X mortality |
| url | http://hdl.handle.net/20.500.11937/17865 |