Meier-Gorlin syndrome

Common Name(s)

Meier-Gorlin syndrome

Meier-Gorlin syndrome is a condition that affects many parts of the body. This disorder is characterized by small ears, absent patellae (kneecaps), and short stature. There are several types of Meier-Gorlin syndrome, each classified by the specific genes affected. This condition has an autosomal recessive pattern of inheritance.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Meier-Gorlin syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Meier-Gorlin syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Meier-Gorlin syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
 

Author(s): Tom Stiff, Meryem Alagoz, Diana Alcantara, Emily Outwin, Han G Brunner, Ernie M H F Bongers, Mark O'Driscoll, Penny A Jeggo

Journal: PLoS Genet.. 2013 ;9(3):e1003360.

 

Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities. Mutations in ATR, which ...

Last Updated: 21 Mar 2013

Go To URL
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.
 

Author(s): Manzar Hossain, Bruce Stillman

Journal: Genes Dev.. 2012 Aug;26(16):1797-810.

 

Like DNA replication, centrosomes are licensed to duplicate once per cell division cycle to ensure genetic stability. In addition to regulating DNA replication, the Orc1 subunit of the human origin recognition complex controls centriole and centrosome copy number. Here we report that ...

Last Updated: 16 Aug 2012

Go To URL
The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome.
 

Author(s): Alex J Kuo, Jikui Song, Peggie Cheung, Satoko Ishibe-Murakami, Sayumi Yamazoe, James K Chen, Dinshaw J Patel, Or Gozani

Journal:

 

The recognition of distinctly modified histones by specialized 'effector' proteins constitutes a key mechanism for transducing molecular events at chromatin to biological outcomes. Effector proteins influence DNA-templated processes, including transcription, DNA recombination and ...

Last Updated: 6 Apr 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Meier-Gorlin syndrome" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.