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.

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

TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A.
 

Author(s): Alex Pines, Madelon Dijk, Matthew Makowski, Elisabeth M Meulenbroek, Mischa G Vrouwe, Yana van der Weegen, Marijke Baltissen, Pim J French, Martin E van Royen, Martijn S Luijsterburg, Leon H Mullenders, Michiel Vermeulen, Wim Vermeulen, Navraj S Pannu, Haico van Attikum

Journal:

 

Transcription-blocking DNA lesions are removed by transcription-coupled nucleotide excision repair (TC-NER) to preserve cell viability. TC-NER is triggered by the stalling of RNA polymerase II at DNA lesions, leading to the recruitment of TC-NER-specific factors such as the CSA-DDB1-CUL4A-RBX1 ...

Last Updated: 31 Dec 1969

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Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports.
 

Author(s): Ali Al Kaissi, Mirya Kuranova, Nadezhda Pleskach, Vladimir Kenis, Nabil M Nassib, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher

Journal: Medicine (Baltimore). 2017 Dec;96(50):e8970.

 

Postnatal growth failure and progressive neurologic dysfunction and increasing multiorgan involvement are the main clinical features of Cockayne syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA repair diseases. Usually, genetic carriers, such as parents ...

Last Updated: 31 Dec 1969

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Renal Involvement in 2 Siblings With Cockayne Syndrome.
 

Author(s): Amel Ben Chehida, Narjess Ghali, Rim Ben Abdelaziz, Fatma Ben Moussa, Neji Tebib

Journal: Iran J Kidney Dis. 2017 May;11(3):253-255.

 

Renal involvement in Cockayne syndrome is rare and its pathogenesis is yet unknown. We report herein 2 cases (siblings) with Cockayne syndrome type A confirmed by biochemical and molecular assays. The first case was a 13-year-old girl who presented with nephritic syndrome and a rapidly ...

Last Updated: 31 Dec 1969

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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 13 free, full-text review articles on human participants. First 3 results:

Xeroderma pigmentosum-Cockayne syndrome complex.
 

Author(s): Valerie Natale, Hayley Raquer

Journal:

 

Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature. We compiled statistics related to symptom prevalence ...

Last Updated: 31 Dec 1969

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Cockayne syndrome: Clinical features, model systems and pathways.
 

Author(s): Ajoy C Karikkineth, Morten Scheibye-Knudsen, Elayne Fivenson, Deborah L Croteau, Vilhelm A Bohr

Journal: Ageing Res. Rev.. 2017 Jan;33():3-17.

 

Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Metabolic Study of Cockayne Syndrome
 

Status: Recruiting

Condition Summary: Cockayne Syndrome

 

Last Updated: 3 Oct 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: 15 Jun 2018

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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: 22 Oct 2017

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