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

Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
 

Author(s): Daiki Kondo, Atsuko Noguchi, Hiroaki Tamura, Satoko Tsuchida, Ikuko Takahashi, Hiroki Kubota, Tamami Yano, Chikako Oyama, Yukio Sawaishi, Shinichi Moriwaki, Tsutomu Takahashi

Journal: Tohoku J. Exp. Med.. 2016 ;239(3):231-5.

 

Nucleotide excision repair (NER) is an essential biological pathway protecting against ultraviolet light-induced DNA damage. Deficient NER causes a group of rare genetic disorders including two autosomal recessive diseases, xeroderma pigmentosum (XP) and Cockayne syndrome (CS). In ...

Last Updated: 11 Jul 2016

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Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation.
 

Author(s): Yuming Wang, Jace Jones-Tabah, Probir Chakravarty, Aengus Stewart, Alysson Muotri, Rebecca R Laposa, Jesper Q Svejstrup

Journal: Cell Rep. 2016 Mar;14(11):2554-61.

 

Cockayne syndrome (CS) is a severe neurodevelopmental disorder characterized by growth abnormalities, premature aging, and photosensitivity. Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to bypass its function by expressing ...

Last Updated: 24 Mar 2016

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Cockayne syndrome-derived neurons display reduced synapse density and altered neural network synchrony.
 

Author(s): Alexandre T Vessoni, Roberto H Herai, Jerome V Karpiak, Angelica M S Leal, Cleber A Trujillo, Annabel Quinet, Lucymara F Agnez Lima, Carlos F M Menck, Alysson R Muotri

Journal: Hum. Mol. Genet.. 2016 Apr;25(7):1271-80.

 

Cockayne syndrome (CS) is a rare genetic disorder in which 80% of cases are caused by mutations in the Excision Repair Cross-Complementation group 6 gene (ERCC6). The encoded ERCC6 protein is more commonly referred to as Cockayne Syndrome B protein (CSB). Classical symptoms of CS ...

Last Updated: 12 Mar 2016

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Metabolic Study of Cockayne Syndrome
 

Status: Not yet recruiting

Condition Summary: Cockayne Syndrome

 

Last Updated: 2 Feb 2017

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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: 20 Apr 2017

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Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Simplex; Epidermolysis Bullosa Simplex Kobner; Weber-Cockayne Syndrome

 

Last Updated: 9 Jan 2017

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