Cockayne Syndrome

Common Name(s)

Cockayne Syndrome

Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the neonate, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities.   Cockayne syndrome type 1 (type A) is sometimes called “classic” Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the “connatal” type.  This type is a more severe form in which growth and developmental abnormalities are present at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations ineither the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. Individuals with type 1 or 2 usually do not survive past childhood, whereas those with type 3 live into adulthood.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cockayne Syndrome" for support, advocacy or research.

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Share and Care Cockayne Syndrome Network, Inc.

Helping children with Cockayne syndrome and their families improve their quality of life through support, education and research.

Last Updated: 13 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cockayne Syndrome" for support, advocacy or research.

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Share and Care Cockayne Syndrome Network, Inc.

Helping children with Cockayne syndrome and their families improve their quality of life through support, education and research.

http://www.cockaynesyndrome.net/

Last Updated: 13 Feb 2013

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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 "Cockayne Syndrome" returned 113 free, full-text research articles on human participants. First 3 results:

The sequence-specific transcription factor c-Jun targets Cockayne syndrome protein B to regulate transcription and chromatin structure.
 

Author(s): Robert J Lake, Erica L Boetefuer, Pei-Fang Tsai, Jieun Jeong, Inchan Choi, Kyoung-Jae Won, Hua-Ying Fan

Journal:

 

Cockayne syndrome is an inherited premature aging disease associated with numerous developmental and neurological defects, and mutations in the gene encoding the CSB protein account for the majority of Cockayne syndrome cases. Accumulating evidence suggests that CSB functions in transcription ...

Last Updated: 18 Apr 2014

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Cockayne syndrome: varied requirement of transcription-coupled nucleotide excision repair for the removal of three structurally different adducts from transcribed DNA.
 

Author(s): Nataliya Kitsera, Karola Gasteiger, Bork Lühnsdorf, Julia Allgayer, Bernd Epe, Thomas Carell, Andriy Khobta

Journal:

 

Hereditary defects in the transcription-coupled nucleotide excision repair (TC-NER) pathway of damaged DNA cause severe neurodegenerative disease Cockayne syndrome (CS), however the origin and chemical nature of the underlying DNA damage had remained unknown. To find out, to which ...

Last Updated: 9 Apr 2014

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Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stress.
 

Author(s): Ulrik Kristensen, Alexey Epanchintsev, Marc-Alexander Rauschendorf, Vincent Laugel, Tinna Stevnsner, Vilhelm A Bohr, Frédéric Coin, Jean-Marc Egly

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2013 Jun;110(25):E2261-70.

 

Cockayne syndrome type B ATPase (CSB) belongs to the SwItch/Sucrose nonfermentable family. Its mutations are linked to Cockayne syndrome phenotypes and classically are thought to be caused by defects in transcription-coupled repair, a subtype of DNA repair. Here we show that after ...

Last Updated: 19 Jun 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cockayne Syndrome" returned 10 free, full-text review articles on human participants. First 3 results:

Multiple interaction partners for Cockayne syndrome proteins: implications for genome and transcriptome maintenance.
 

Author(s): Maria D Aamann, Meltem Muftuoglu, Vilhelm A Bohr, Tinna Stevnsner

Journal: Mech. Ageing Dev.. ;134(5-6):212-24.

 

Cockayne syndrome (CS) is characterized by progressive multisystem degeneration and is classified as a segmental premature aging syndrome. The majority of CS cases are caused by defects in the CS complementation group B (CSB) protein and the rest are mainly caused by defects in the ...

Last Updated: 22 May 2013

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Mitochondrial deficiency in Cockayne syndrome.
 

Author(s): Morten Scheibye-Knudsen, Deborah L Croteau, Vilhelm A Bohr

Journal: Mech. Ageing Dev.. ;134(5-6):275-83.

 

Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease. This is particularly interesting since mitochondrial deficiencies ...

Last Updated: 22 May 2013

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What role (if any) does the highly conserved CSB-PGBD3 fusion protein play in Cockayne syndrome?
 

Author(s): Alan M Weiner, Lucas T Gray

Journal: Mech. Ageing Dev.. ;134(5-6):225-33.

 

The PGBD3 piggyBac transposon inserted into CSB intron 5 early in the primate lineage. As a result of alternative splicing, the human CSB gene now encodes three proteins: CSB, a CSB-PGBD3 fusion protein that joins the N-terminal CSB domain to the C-terminal PGBD3 transposase domain, ...

Last Updated: 22 May 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
 

Status: Recruiting

Condition Summary: Cockayne Syndrome; Skin Cancer; Xeroderma Pigmentosum; Trichothiodystrophy; Genodermatosis

 

Last Updated: 11 Nov 2014

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