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.

http://www.cockaynesyndrome.net/

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.

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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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 99 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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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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A possible cranio-oro-facial phenotype in Cockayne syndrome.
 

Author(s): Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis, Emmanuelle Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus, Vincent Laugel

Journal:

 

Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral ...

Last Updated: 18 Mar 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 7 free, full-text review articles on human participants. First 3 results:

Interaction between the Cockayne syndrome B and p53 proteins: implications for aging.
 

Author(s): Mattia Frontini, Luca Proietti-De-Santis

Journal: Aging (Albany NY). 2012 Feb;4(2):89-97.

 

The CSB protein plays a role in the transcription coupled repair (TCR) branch of the nucleotide excision repair pathway. CSB is very often found mutated in Cockayne syndrome, a segmental progeroid genetic disease characterized by organ degeneration and growth failure. The tumor suppressor ...

Last Updated: 13 Mar 2012

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The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging.
 

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

Journal: Mech. Ageing Dev.. ;129(7-8):441-8.

 

Cockayne Syndrome (CS) is a rare human genetic disorder characterized by progressive multisystem degeneration and segmental premature aging. The CS complementation group B (CSB) protein is engaged in transcription coupled and global nucleotide excision repair, base excision repair ...

Last Updated: 23 Jun 2008

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Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
 

Author(s): K H Kraemer, N J Patronas, R Schiffmann, B P Brooks, D Tamura, J J DiGiovanna

Journal: Neuroscience. 2007 Apr;145(4):1388-96.

 

Patients with the rare genetic disorders, xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS) have defects in DNA nucleotide excision repair (NER). The NER pathway involves at least 28 genes. Three NER genes are also part of the basal transcription factor, ...

Last Updated: 24 Apr 2007

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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: 19 Apr 2014

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