| Ligase IV syndrome. | |
| | |
MedLine Citation:
|
PMID: 20687505 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Ligase IV (LIG4) syndrome belongs to the group of hereditary disorders associated with impaired DNA damage response mechanisms. Clinically and morphologically, patients affected with this syndrome are characterized by microcephaly, unusual facial features, growth retardation, developmental delay, skin anomalies and are typically pancytopenic. The disease leads to acute radiosensitivity, immunodeficiency and bone marrow abnormalities. LIG4 syndrome arises from hypomorphic mutations in the LIG4 gene encoding DNA ligase IV; a component of the nonhomologous end-joining machinery, which represents a major mechanism of repair of double strand DNA breaks in mammals. The hypomorphic mutations do not completely abolish but significantly reduce enzyme function. This results in impaired V(D)J recombination, the essential rejoining process in T- and B-cell development, in whose ligase IV plays the key role. As a consequence, patients with LIG4 syndrome frequently develop multiple immune abnormalities, clinically overlapping with severe combined immunodeficiency syndrome. |
| | |
Authors:
|
Dimitry A Chistiakov |
Related Documents
:
|
17143285 - Germline gain-of-function mutations in sos1 cause noonan syndrome. 15772095 - Mkks-null mice have a phenotype resembling bardet-biedl syndrome. 8068885 - Clinical syndromes of hormone receptor mutations: hormone resistance and independence. 9800905 - Stickler-like syndrome due to a dominant negative mutation in the col2a1 gene. 19204025 - Survivors from beta-fluoroethyl acetate poisoning show a selective cerebellar syndrome. 19155935 - Group a streptococcus causing necrotizing fasciitis and toxic shock syndrome after medi... |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: Advances in experimental medicine and biology Volume: 685 ISSN: 0065-2598 ISO Abbreviation: Adv. Exp. Med. Biol. Publication Date: 2010 |
Date Detail:
|
Created Date: 2010-08-06 Completed Date: 2010-08-20 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0121103 Medline TA: Adv Exp Med Biol Country: United States |
Other Details:
|
Languages: eng Pagination: 175-85 Citation Subset: IM |
Affiliation:
|
Department of Molecular Diagnostics, National Research Center GosNIIGenetika, 1st Dorozhny Proezd 1, 117545 Moscow, Russia. dimitry.chistiakov@lycos.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Animals B-Lymphocytes / enzymology Bone Marrow Diseases* / enzymology, genetics DNA Breaks, Double-Stranded DNA Ligases* / genetics, metabolism DNA Repair-Deficiency Disorders* / enzymology, genetics Humans Mutation* Radiation Tolerance / genetics* Recombination, Genetic / genetics Skin Diseases, Genetic* / enzymology, genetics Syndrome T-Lymphocytes / enzymology |
| Chemical | |
Reg. No./Substance:
|
EC 6.5.1.-/DNA Ligases; EC 6.5.1.1/DNA ligase (ATP) |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Inherited defects of immunoglobulin class switch recombination.
Next Document: Muir-Torre syndrome.