Cockayne syndrome

Common Name(s)

Cockayne syndrome

Cockayne syndrome is the name of a group of genetic disorders that cause early (premature) aging. Symptoms of Cockayne syndrome may include height that is below average (short stature), sunlight sensitivity (photosensitivity), difficulty gaining weight (failure to thrive), small head size (microcephaly), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). Even a small amount of sunlight can cause severe sunburn in a child with Cockayne syndrome. There are 3 types of Cockayne syndrome that are defined by the age of onset and severity of symptoms. Affected children usually have a shortened life expectancy due to premature aging.

Cockayne syndrome is caused by changes (mutations) in either the ERCC6 or ERCC8 gene. These genes act as instructions for the body to make proteins that are important for DNA repair. DNA damage typically occurs from exposure to the sun, toxic chemicals, or radiation. Normally, the body is able to repair this damage before it causes health issues. However, individuals with this condition cannot repair the damage fast enough, which causes cells to die off early and leads to the premature aging seen in Cockayne syndrome. This condition is inherited in an autosomal recessive way, which means a mutation in both copies of the gene a child has is needed to cause Cockayne syndrome.

Cockayne syndrome is considered in children who have failure to thrive, short stature, abnormal brain imaging, and other features of premature aging. The diagnosis is confirmed with genetic testing. Although there is no cure for Cockayne syndrome, there are options to help decrease the symptoms, including the use of strong sunscreen and avoiding sunlight. If your child has been diagnosed with Cockayne syndrome, talk to their doctor about all treatment options. Support groups can provide more information and connect you with other affected families.

Source: Advocacy organizations associated with the condition.

 

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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General Support Organizations

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How do you compare to others with this condition?

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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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General Support Organizations

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

Regulation of Transcription Elongation by the XPG-TFIIH Complex Is Implicated in Cockayne Syndrome.
 

Author(s): Takashi Narita, Keiko Narita, Arato Takedachi, Masafumi Saijo, Kiyoji Tanaka

Journal: Mol. Cell. Biol.. 2015 Sep;35(18):3178-88.

 

XPG is a causative gene underlying the photosensitive disorder xeroderma pigmentosum group G (XP-G) and is involved in nucleotide excision repair. Here, we show that XPG knockdown represses epidermal growth factor (EGF)-induced FOS transcription at the level of transcription elongation ...

Last Updated: 18 Aug 2015

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DNA damage during the G0/G1 phase triggers RNA-templated, Cockayne syndrome B-dependent homologous recombination.
 

Author(s): Leizhen Wei, Satoshi Nakajima, Stefanie Böhm, Kara A Bernstein, Zhiyuan Shen, Michael Tsang, Arthur S Levine, Li Lan

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Jul;112(27):E3495-504.

 

Damage repair mechanisms at transcriptionally active sites during the G0/G1 phase are largely unknown. To elucidate these mechanisms, we introduced genome site-specific oxidative DNA damage and determined the role of transcription in repair factor assembly. We find that KU and NBS1 ...

Last Updated: 8 Jul 2015

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Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome.
 

Author(s): Laurent Chatre, Denis S F Biard, Alain Sarasin, Miria Ricchetti

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Jun;112(22):E2910-9.

 

UV-sensitive syndrome (UV(S)S) and Cockayne syndrome (CS) are human disorders caused by CSA or CSB gene mutations; both conditions cause defective transcription-coupled repair and photosensitivity. Patients with CS also display neurological and developmental abnormalities and dramatic ...

Last Updated: 3 Jun 2015

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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 11 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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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 May 2016

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