Cargando…
Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome
Meier-Gorlin syndrome (ear, patella, short stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterised by absent/hypoplastic patellae and markedly small ears1-3. Both pre and post-natal growth are impaired in this disorder and although microcephaly is often evident, intell...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
2011
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3068194/ https://www.ncbi.nlm.nih.gov/pubmed/21358632 http://dx.doi.org/10.1038/ng.775 |
| _version_ | 1782201205186887680 |
|---|---|
| author | Bicknell, Louise S. Bongers, Ernie M.H.F. Leitch, Andrea Brown, Stephen Schoots, Jeroen Harley, Margaret E. Aftimos, Salim Al-Aama, Jumana Y. Bober, Michael Brown, Paul A. J. van Bokhoven, Hans Dean, John Edrees, Alaa Y. Feingold, Murray Fryer, Alan Hoefsloot, Lies H. Kau, Nikolaus Knoers, Nine V.A.M. MacKenzie, James Opitz, John M. Sarda, Pierre Ross, Alison Temple, I. Karen Toutain, Annick Wise, Carol A. Wright, Michael Jackson, Andrew P. |
| author_facet | Bicknell, Louise S. Bongers, Ernie M.H.F. Leitch, Andrea Brown, Stephen Schoots, Jeroen Harley, Margaret E. Aftimos, Salim Al-Aama, Jumana Y. Bober, Michael Brown, Paul A. J. van Bokhoven, Hans Dean, John Edrees, Alaa Y. Feingold, Murray Fryer, Alan Hoefsloot, Lies H. Kau, Nikolaus Knoers, Nine V.A.M. MacKenzie, James Opitz, John M. Sarda, Pierre Ross, Alison Temple, I. Karen Toutain, Annick Wise, Carol A. Wright, Michael Jackson, Andrew P. |
| author_sort | Bicknell, Louise S. |
| collection | PubMed |
| description | Meier-Gorlin syndrome (ear, patella, short stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterised by absent/hypoplastic patellae and markedly small ears1-3. Both pre and post-natal growth are impaired in this disorder and although microcephaly is often evident, intellect is usually normal. We report here that this disorder shows marked locus heterogeneity and we identify mutations in five separate genes: ORC1, ORC4, ORC6, CDT1 and CDC6. All encode components of the pre-replication complex, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities. |
| format | Text |
| id | pubmed-3068194 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-30681942011-10-01 Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome Bicknell, Louise S. Bongers, Ernie M.H.F. Leitch, Andrea Brown, Stephen Schoots, Jeroen Harley, Margaret E. Aftimos, Salim Al-Aama, Jumana Y. Bober, Michael Brown, Paul A. J. van Bokhoven, Hans Dean, John Edrees, Alaa Y. Feingold, Murray Fryer, Alan Hoefsloot, Lies H. Kau, Nikolaus Knoers, Nine V.A.M. MacKenzie, James Opitz, John M. Sarda, Pierre Ross, Alison Temple, I. Karen Toutain, Annick Wise, Carol A. Wright, Michael Jackson, Andrew P. Nat Genet Article Meier-Gorlin syndrome (ear, patella, short stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterised by absent/hypoplastic patellae and markedly small ears1-3. Both pre and post-natal growth are impaired in this disorder and although microcephaly is often evident, intellect is usually normal. We report here that this disorder shows marked locus heterogeneity and we identify mutations in five separate genes: ORC1, ORC4, ORC6, CDT1 and CDC6. All encode components of the pre-replication complex, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities. 2011-02-27 /pmc/articles/PMC3068194/ /pubmed/21358632 http://dx.doi.org/10.1038/ng.775 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Bicknell, Louise S. Bongers, Ernie M.H.F. Leitch, Andrea Brown, Stephen Schoots, Jeroen Harley, Margaret E. Aftimos, Salim Al-Aama, Jumana Y. Bober, Michael Brown, Paul A. J. van Bokhoven, Hans Dean, John Edrees, Alaa Y. Feingold, Murray Fryer, Alan Hoefsloot, Lies H. Kau, Nikolaus Knoers, Nine V.A.M. MacKenzie, James Opitz, John M. Sarda, Pierre Ross, Alison Temple, I. Karen Toutain, Annick Wise, Carol A. Wright, Michael Jackson, Andrew P. Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome |
| title | Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome |
| title_full | Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome |
| title_fullStr | Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome |
| title_full_unstemmed | Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome |
| title_short | Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome |
| title_sort | mutations in the pre-replication complex cause meier-gorlin syndrome |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3068194/ https://www.ncbi.nlm.nih.gov/pubmed/21358632 http://dx.doi.org/10.1038/ng.775 |
| work_keys_str_mv | AT bicknelllouises mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT bongerserniemhf mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT leitchandrea mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT brownstephen mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT schootsjeroen mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT harleymargarete mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT aftimossalim mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT alaamajumanay mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT bobermichael mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT brownpaulaj mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT vanbokhovenhans mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT deanjohn mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT edreesalaay mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT feingoldmurray mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT fryeralan mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT hoefslootliesh mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT kaunikolaus mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT knoersninevam mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT mackenziejames mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT opitzjohnm mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT sardapierre mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT rossalison mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT templeikaren mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT toutainannick mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT wisecarola mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT wrightmichael mutationsintheprereplicationcomplexcausemeiergorlinsyndrome AT jacksonandrewp mutationsintheprereplicationcomplexcausemeiergorlinsyndrome |