Cockayne syndrome: Review of 140 cases
Abstract
To define diagnostic criteria for Cockayne Syndrome (CS) and to identify in detail the complications of the condition, a comprehensive review of 140 cases of CS was performed. Criteria required for the diagnosis include poor growth and neurologic abnormality; other very common manifestations include sensorineural hearing loss, cataracts, pigmentary retinopathy, cutaneous photosensitivity, and dental caries. The mean age of death in reported cases is 12 3/12 years, though a few affected individuals have lived into their late teens and twenties. Prenatal growth failure, congenital structural eye anomalies, severe neurologic dysfunction from birth, and the presence of cataracts within the first 3 years of life are predictors of severe disease and early death. In contrast with other disorders of chromosome or DNA repair, cancer has never been reported in a classical CS patient, and there appears to be no predisposition to infectious complications. The wide spectrum of symptoms and severity of the disease suggest that biochemical and genetic heterogeneity exist. CS is an uncommon but devastating genetic condition which will be better understood as the biochemical interrelationships between DNA replication and repair, and between growth, homeostasis, and oncogenesis are unraveled.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The reported average life expectancy of patients with CS is only 12 years.
“The reported average life expectancy of patients with CS is only 12 y (4).”
From Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency (2016) · cites this paper as [4]
No known CS patient has ever developed cancer.
“In contrast to XP-C patients, no known CS patient has ever developed cancer (4, 5, 8).”
From Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency (2016) · cites this paper as [4]
Cited by
Sorted by citations
Stewart, F. A., Akleyev, A. V., Hauer-Jensen, M., Hendry, J. H., Kleiman, N. J., MacVittie, T. J., Aleman, B. M., Edgar, A. B., Mabuchi, K., Muirhead, C. R., et al. (2012) · Annals of the ICRP · doi:10.1016/j.icrp.2012.02.001 · Cited by 1,604 · see citing works
Troelstra, C., van Gool, A., de Wit, J., Vermeulen, W., Bootsma, D., & Hoeijmakers, J. H. J. (1992) · Cell · doi:10.1016/0092-8674(92)90390-x · Cited by 729 · see citing works
How nucleotide excision repair protects against cancer
Friedberg, E. C. (2001) · Nature Reviews Cancer · doi:10.1038/35094000 · Cited by 730 · see citing works
Nucleotide excision repair and human syndromes
de Boer, J., & Hoeijmakers, J. H. J. (2000) · Carcinogenesis · doi:10.1093/carcin/21.3.453 · Cited by 674 · see citing works
Loss of epigenetic information as a cause of mammalian aging
Yang, J.-H., Hayano, M., Griffin, P. T., Amorim, J. A., Bonkowski, M. S., Apostolides, J. K., Salfati, E. L., Blanchette, M., Munding, E. M., Bhakta, M., et al. (2023) · Cell · doi:10.1016/j.cell.2022.12.027 · Cited by 643 · see citing works
Henning, K. A., Li, L., Iyer, N., McDaniel, L. D., Reagan, M. S., Legerski, R., Schultz, R. A., Stefanini, M., Lehmann, A. R., Mayne, L. V., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90028-4 · Cited by 507 · see citing works
Cancer in xeroderma pigmentosum and related disorders of DNA repair
Cleaver, J. E. (2005) · Nature Reviews Cancer · doi:10.1038/nrc1652 · Cited by 427 · see citing works
DNA damage-how and why we age?
Yousefzadeh, M., Henpita, C., Vyas, R., Soto-Palma, C., Robbins, P., & Niedernhofer, L. (2021) · eLife · doi:10.7554/elife.62852 · Cited by 399 · see citing works
Animal models of aging research: implications for human aging and age-related diseases
Mitchell, S. J., Scheibye-Knudsen, M., Longo, D. L., & de Cabo, R. (2015) · Annual Review of Animal Biosciences · doi:10.1146/annurev-animal-022114-110829 · Cited by 328 · see citing works
DNA Repair in Mammalian Cells: Nucleotide excision repair: variations on versatility
Nouspikel, T. (2009) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-009-8737-y · Cited by 330 · see citing works
DNA repair deficiency and neurological disease
McKinnon, P. J. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2559 · Cited by 323 · see citing works
Nuclear genomic instability and aging
Niedernhofer, L. J., Gurkar, A. U., Wang, Y., Vijg, J., Hoeijmakers, J. H. J., & Robbins, P. D. (2018) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-062917-012239 · Cited by 275 · see citing works
Cockayne syndrome: Clinical features, model systems and pathways
Karikkineth, A. C., Scheibye-Knudsen, M., Fivenson, E., Croteau, D. L., & Bohr, V. A. (2017) · Ageing Research Reviews · doi:10.1016/j.arr.2016.08.002 · Cited by 262 · see citing works
RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6.
van Gool, A. J., Verhage, R., Swagemakers, S. M., van de Putte, P., Brouwer, J., Troelstra, C., Bootsma, D., & Hoeijmakers, J. H. (1994) · The EMBO Journal · doi:10.1002/j.1460-2075.1994.tb06871.x · Cited by 246 · see citing works
Molecular bases of progeroid syndromes
Navarro, C. L., Cau, P., & Lévy, N. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl214 · Cited by 189 · see citing works
Mammalian Transcription-Coupled Excision Repair
Vermeulen, W., & Fousteri, M. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012625 · Cited by 184 · see citing works
Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., & Clarkson, S. G. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.7.3116 · Cited by 163 · see citing works
RetractedNucleotide excision repair and cancer
Leibeling, D., Laspe, P., & Emmert, S. (2006) · Journal of Molecular Histology · doi:10.1007/s10735-006-9041-x · Cited by 164 · see citing works
Cockayne syndrome B protein regulates the transcriptional program after UV irradiation
Proietti‐De‐Santis, L., Drané, P., & Egly, J. (2006) · The EMBO Journal · doi:10.1038/sj.emboj.7601071 · Cited by 163 · see citing works
Divide and conquer: nucleotide excision repair battles cancer and ageing
Mitchell, J. R., Hoeijmakers, J. H., & Niedernhofer, L. J. (2003) · Current Opinion in Cell Biology · doi:10.1016/s0955-0674(03)00018-8 · Cited by 160 · see citing works
Weidenheim, K. M., Dickson, D. W., & Rapin, I. (2009) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2009.07.006 · Cited by 156 · see citing works
The role of CSA in the response to oxidative DNA damage in human cells
D'Errico, M., Parlanti, E., Teson, M., Degan, P., Lemma, T., Calcagnile, A., Iavarone, I., Jaruga, P., Ropolo, M., Pedrini, A. M., et al. (2007) · Oncogene · doi:10.1038/sj.onc.1210232 · Cited by 137 · see citing works
Cockayne syndrome in adults: Review with clinical and pathologic study of a new case
Rapin, I., Weidenheim, K., Lindenbaum, Y., Rosenbaum, P., Merchant, S. N., Krishna, S., & Dickson, D. W. (2006) · Journal of Child Neurology · doi:10.1177/08830738060210110101 · Cited by 124 · see citing works
Kraemer, K. H., Levy, D. D., Parris, C. N., Gozukara, E. M., Moriwaki, S., Adelberg, S., & Seidman, M. M. (1994) · Journal of Investigative Dermatology · doi:10.1038/jid.1994.17 · Cited by 118 · see citing works
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients
Emmert, S., Slor, H., Busch, D. B., Batko, S., Albert, R. B., Coleman, D., Khan, S. G., Abu-Libdeh, B., DiGiovanna, J. J., Cunningham, B. B., et al. (2002) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2002.01782.x · Cited by 111 · see citing works
Murai, M., Enokido, Y., Inamura, N., Yoshino, M., Nakatsu, Y., van der Horst, G. T. J., Hoeijmakers, J. H. J., Tanaka, K., & Hatanaka, H. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.231329598 · Cited by 109 · see citing works
Lima-Bessa, K. M. D., Armelini, M. G., Chiganças, V., Jacysyn, J. F., Amarante-Mendes, G. P., Sarasin, A., & Menck, C. F. M. (2008) · DNA Repair · doi:10.1016/j.dnarep.2007.11.003 · Cited by 87 · see citing works
Blockage of RNA Polymerase II at a Cyclobutane Pyrimidine Dimer and 6-4 Photoproduct
Mei Kwei, J. S., Kuraoka, I., Horibata, K., Ubukata, M., Kobatake, E., Iwai, S., Handa, H., & Tanaka, K. (2004) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2004.06.066 · Cited by 82 · see citing works
Andressoo, J.-O., Mitchell, J. R., de Wit, J., Hoogstraten, D., Volker, M., Toussaint, W., Speksnijder, E., Beems, R. B., van Steeg, H., Jans, J., et al. (2006) · Cancer Cell · doi:10.1016/j.ccr.2006.05.027 · Cited by 78 · see citing works
Gene expression and DNA repair in progeroid syndromes and human aging
Kyng, K. J., & Bohr, V. A. (2005) · Ageing Research Reviews · doi:10.1016/j.arr.2005.06.008 · Cited by 71 · see citing works
The impact of base excision DNA repair in age-related neurodegenerative diseases
Leandro, G. S., Sykora, P., & Bohr, V. A. (2015) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2014.12.011 · Cited by 72 · see citing works
D'Errico, M., Teson, M., Calcagnile, A., Nardo, T., De Luca, N., Lazzari, C., Soddu, S., Zambruno, G., Stefanini, M., & Dogliotti, E. (2005) · Cancer Research · doi:10.1158/0008-5472.432.65.2 · Cited by 64 · see citing works
DNA repair mechanisms protect our genome from carcinogenesis
Moraes, M. C. S. (2012) · Frontiers in Bioscience · doi:10.2741/3992 · Cited by 64 · see citing works
Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells
Osenbroch, P. Ø., Auk‐Emblem, P., Halsne, R., Strand, J., Forstrøm, R. J., van der Pluijm, I., & Eide, L. (2009) · The FEBS Journal · doi:10.1111/j.1742-4658.2009.07004.x · Cited by 60 · see citing works
DNA Damage-Induced Neurodegeneration in Accelerated Ageing and Alzheimer’s Disease
Wang, H., Lautrup, S., Caponio, D., Zhang, J., & Fang, E. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22136748 · Cited by 55 · see citing works
Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency
Reid-Bayliss, K. S., Arron, S. T., Loeb, L. A., Bezrookove, V., & Cleaver, J. E. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1610020113 · Cited by 55 · see citing works
UVSSA and USP7, a new couple in transcription-coupled DNA repair
Schwertman, P., Vermeulen, W., & Marteijn, J. A. (2013) · Chromosoma · doi:10.1007/s00412-013-0420-2 · Cited by 49 · see citing works
Wei, L., Lan, L., Yasui, A., Tanaka, K., Saijo, M., Matsuzawa, A., Kashiwagi, R., Maseki, E., Hu, Y., Parvin, J. D., et al. (2011) · Cancer Science · doi:10.1111/j.1349-7006.2011.02037.x · Cited by 48 · see citing works
Mallet, J. D., Dorr, M. M., Drigeard Desgarnier, M.-C., Bastien, N., Gendron, S. P., & Rochette, P. J. (2016) · PLoS ONE · doi:10.1371/journal.pone.0162212 · Cited by 40 · see citing works
Disorders of nucleotide excision repair
(2013) · Handbook of Clinical Neurology · doi:10.1016/b978-0-444-59565-2.00032-0 · Cited by 33 · see citing works
Falik‐Zaccai, T. C., Laskar, M., Kfir, N., Nasser, W., Slor, H., & Khayat, M. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32309 · Cited by 29 · see citing works
Nagtegaal, A. P., Rainey, R. N., van der Pluijm, I., Brandt, R. M. C., van der Horst, G. T. J., Borst, J. G. G., & Segil, N. (2015) · The Journal of Neuroscience · doi:10.1523/jneurosci.5063-14.2015 · Cited by 25 · see citing works
Nucleotide excision repair and related human diseases
Bergoglio, V., & Magnaldo, T. (2006) · Genome Dynamics · doi:10.1159/000092499 · Cited by 25 · see citing works
Understanding photodermatoses associated with defective DNA repair
Yew, Y. W., Giordano, C. N., Spivak, G., & Lim, H. W. (2016) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2016.03.044 · Cited by 22 · see citing works
Transcription Blockage by DNA Damage in Nucleotide Excision Repair-Related Neurological Dysfunctions
Kajitani, G. S., Nascimento, L. L. D. S., Neves, M. R. D. C., Leandro, G. D. S., Garcia, C. C. M., & Menck, C. F. M. (2021) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2020.10.009 · Cited by 22 · see citing works
Absence of skin cancer in the DNA repair-deficient disease Cockayne Syndrome (CS): a survey study
Zhang, W. R., Garrett, G. L., Cleaver, J. E., & Arron, S. T. (2016) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2016.01.003 · Cited by 19 · see citing works
Chemiexcitation: Mammalian Photochemistry in the Dark<sup>†</sup>
Brash, D. E., & Goncalves, L. C. P. (2023) · Photochemistry and Photobiology · doi:10.1111/php.13781 · Cited by 16 · see citing works
Hereditary Disorders with Defective Repair of UV-Induced DNA Damage
Moriwaki, S. (2013) · Japanese Clinical Medicine · doi:10.4137/jcm.s10730 · Cited by 14 · see citing works
- Authors
- Nance, M. A., & Berry, S. A.
- Affiliations
- University of Minnesota (US)
- Corresponding author
- Nance, Martha A.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1992-01
- Volume
- 42
- Issue
- 1
- Pages
- 68-84
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2154699761
- Cited by
- 806
- References
- 0
- Citations by year
- 2026: 7 · 2025: 20 · 2024: 19 · 2023: 18 · 2022: 22 · 2021: 29 · 2020: 19 · 2019: 16 · 2018: 29 · 2017: 19 · 2016: 24 · 2015: 30 · 2014: 38 · 2013: 44 · 2012: 25
- FWCI
- 7.27
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- Cockayne syndrome, diagnostic criteria, growth failure, neurologic dysfunction, sensorineural hearing loss, cataract, pigmentary retinopathy, photosensitivity, dental caries, disease severity predictors, early mortality, DNA repair disorders, genetic heterogeneity, DNA replication
- MeSH terms
- Adult, Child, Child, Preschool, Cockayne Syndrome, Dental Caries, DNA Repair, Endocrine System Diseases, Eye Diseases, Female, Growth Disorders, Hearing Loss, Sensorineural, Humans, Kidney Diseases, Male, Nervous System Diseases, Phenotype, Skin Diseases
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review