Lig4 syndrome

Common Name(s)

Lig4 syndrome

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lig4 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 "Lig4 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 "Lig4 syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
 

Author(s): Francesca Rucci, Luigi D Notarangelo, Alex Fazeli, Laura Patrizi, Thomas Hickernell, Tiziana Paganini, Kristen M Coakley, Cynthia Detre, Marton Keszei, Jolan E Walter, Lauren Feldman, Hwei-Ling Cheng, Pietro Luigi Poliani, Jing H Wang, Barbara B Balter, Mike Recher, Emma-Maria Andersson, Shan Zha, Silvia Giliani, Cox Terhorst, Frederick W Alt, Catherine T Yan

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2010 Feb;107(7):3024-9.

 

DNA ligase IV (LIG4) is an essential component of the nonhomologous end-joining (NHEJ) repair pathway and plays a key role in V(D)J recombination. Hypomorphic LIG4 mutations in humans are associated with increased cellular radiosensitivity, microcephaly, facial dysmorphisms, growth ...

Last Updated: 17 Feb 2010

Go To URL
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.
 

Author(s): Pierre-Marie Girard, Boris Kysela, Christine J Härer, Aidan J Doherty, Penny A Jeggo

Journal: Hum. Mol. Genet.. 2004 Oct;13(20):2369-76.

 

LIG4 syndrome patients have hypomorphic mutations in DNA ligase IV. Although four of the five identified patients display immunodeficiency and developmental delay, one patient was developmentally normal. The developmentally normal patient had the same homozygous mutation (R278H) in ...

Last Updated: 24 Sep 2004

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 "Lig4 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.