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

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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Identification of Novel Proteins Co-Purifying with Cockayne Syndrome Group B (CSB) Reveals Potential Roles for CSB in RNA Metabolism and Chromatin Dynamics.
 

Author(s): Serena Nicolai, Silvia Filippi, Manuela Caputo, Lubos Cipak, Juraj Gregan, Gustav Ammerer, Mattia Frontini, Daniela Willems, Giorgio Prantera, Adayabalam S Balajee, Luca Proietti-De-Santis

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The CSB protein, a member of the SWI/SNF ATP dependent chromatin remodeling family of proteins, plays a role in a sub-pathway of nucleotide excision repair (NER) known as transcription coupled repair (TCR). CSB is frequently mutated in Cockayne syndrome group B, a segmental progeroid ...

Last Updated: 2 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: 10 Feb 2016

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