Health Conditions Related to Genetic Changes
Meier-Gorlin syndrome
Mutations in the ORC4 gene cause Meier-Gorlin syndrome, a condition characterized by short stature, underdeveloped kneecaps, and small ears. These mutations alter the ORC4 protein, typically by changing single protein building blocks (amino acids) or by leading to production of an abnormally short version of the ORC4 protein. The most common ORC4 gene mutation in people with this condition replaces the amino acid tyrosine at position 174 with the amino acid cysteine (written as Tyr174Cys). As a result of these changes, assembly of the pre-replication complex is impaired, which disrupts replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which slows growth of the bones and other tissues during development. It is not known why development of the kneecaps and ears is particularly affected.
More About This Health ConditionOther Names for This Gene
- HsORC4
- ORC4_HUMAN
- ORC4L
- ORC4P
- origin recognition complex, subunit 4
- origin recognition complex, subunit 4 homolog
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):356-9. doi: 10.1038/ng.775. Citation on PubMed or Free article on PubMed Central
- Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777. Citation on PubMed
- Niida H, Kitagawa M. Regulation of DNA replication licensing. Curr Drug Targets. 2012 Dec;13(13):1588-92. doi: 10.2174/138945012803529965. Citation on PubMed
- Prasanth SG, Shen Z, Prasanth KV, Stillman B. Human origin recognition complex is essential for HP1 binding to chromatin and heterochromatin organization. Proc Natl Acad Sci U S A. 2010 Aug 24;107(34):15093-8. doi: 10.1073/pnas.1009945107. Epub 2010 Aug 5. Citation on PubMed or Free article on PubMed Central
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