Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome - PubMed (original) (raw)
Case Reports
. 2011 Feb 27;43(4):360-4.
doi: 10.1038/ng.777.
Makoto Matsuoka, Haiyan Jiang, Susan Evans, Christine Macgillivray, Mathew Nightingale, Scott Perry, Meghan Ferguson, Marissa LeBlanc, Jean Paquette, Lysanne Patry, Andrea L Rideout, Aidan Thomas, Andrew Orr, Chris R McMaster, Jacques L Michaud, Cheri Deal, Sylvie Langlois, Duane W Superneau, Sandhya Parkash, Mark Ludman, David L Skidmore, Mark E Samuels
Affiliations
- PMID: 21358631
- DOI: 10.1038/ng.777
Case Reports
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
Duane L Guernsey et al. Nat Genet. 2011.
Abstract
Meier-Gorlin syndrome is a rare autosomal recessive genetic condition whose primary clinical hallmarks include small stature, small external ears and small or absent patellae. Using marker-assisted mapping in multiple families from a founder population and traditional coding exon sequencing of positional candidate genes, we identified three different mutations in the gene encoding ORC4, a component of the eukaryotic origin recognition complex, in five individuals with Meier-Gorlin syndrome. In two such individuals that were negative for mutations in ORC4, we found potential mutations in ORC1 and CDT1, two other genes involved in origin recognition. ORC4 is well conserved in eukaryotes, and the yeast equivalent of the human ORC4 missense mutation was shown to be pathogenic in functional assays of cell growth. This is the first report, to our knowledge, of a germline mutation in any gene of the origin recognition complex in a vertebrate organism.
Comment in
- Of ORC and forks: the identification of mutations implicated in Meier-Gorlin syndrome.
Ladha S. Ladha S. Clin Genet. 2011 Dec;80(6):506-7. doi: 10.1111/j.1399-0004.2011.01779.x. Epub 2011 Oct 12. Clin Genet. 2011. PMID: 21895639 No abstract available.
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