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 111 free, full-text research articles on human participants. First 3 results:

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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Blinded by the UV light: how the focus on transcription-coupled NER has distracted from understanding the mechanisms of Cockayne syndrome neurologic disease.
 

Author(s): P J Brooks

Journal: DNA Repair (Amst.). 2013 Aug;12(8):656-71.

 

Cockayne syndrome (CS) is a devastating neurodevelopmental disorder, with growth abnormalities, progeriod features, and sun sensitivity. CS is typically considered to be a DNA repair disorder, since cells from CS patients have a defect in transcription-coupled nucleotide excision ...

Last Updated: 22 Jul 2013

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Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
 

Author(s): Kazuya Kashiyama, Yuka Nakazawa, Daniela T Pilz, Chaowan Guo, Mayuko Shimada, Kensaku Sasaki, Heather Fawcett, Jonathan F Wing, Susan O Lewin, Lucinda Carr, Tao-Sheng Li, Koh-ichiro Yoshiura, Atsushi Utani, Akiyoshi Hirano, Shunichi Yamashita, Danielle Greenblatt, Tiziana Nardo, Miria Stefanini, David McGibbon, Robert Sarkany, Hiva Fassihi, Yoshito Takahashi, Yuji Nagayama, Norisato Mitsutake, Alan R Lehmann, Tomoo Ogi

Journal: Am. J. Hum. Genet.. 2013 May;92(5):807-19.

 

Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, ...

Last Updated: 6 May 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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