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 and Jackson, Andrew P. (2011) Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nature Genetics, 43, (4), 356-359. (doi:10.1038/ng.775) (PMID:21358632)
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Description/Abstract
Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears1, 2, 3. Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often evident, intellect is usually normal in this syndrome. We report here that individuals with this disorder show marked locus heterogeneity, and we identify mutations in five separate genes: ORC1, ORC4, ORC6, CDT1 and CDC6. All of these genes encode components of the pre-replication complex, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities.
| Item Type: | Article |
|---|---|
| ISSN: | 1061-4036 (print) 1546-1718 (electronic) |
| Subjects: | Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General) |
| Divisions: | University Structure - Pre August 2011 > School of Medicine > Human Genetics |
| ePrint ID: | 178015 |
| URI: | http://eprints.soton.ac.uk/id/eprint/178015 |
| Deposited On: | 22 Mar 2011 14:31 |
| Last Modified: | 01 Jun 2011 11:25 |
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