The Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for care

dc.contributor.authorWilson, Brian T.
dc.contributor.authorStark, Zornitza
dc.contributor.authorSutton, Ruth E.
dc.contributor.authorDanda, Sumita
dc.contributor.authorEkbote, Alka V.
dc.contributor.authorElsayed, Solaf M.
dc.contributor.authorGibson, Louise
dc.contributor.authorGoodship, Judith A.
dc.contributor.authorJackson, Andrew P.
dc.contributor.authorKeng, Wee Teik
dc.contributor.authorKing, Mary D.
dc.contributor.authorMcCann, Emma
dc.contributor.authorMotojima, Toshino
dc.contributor.authorMurray, Jennifer E.
dc.contributor.authorOmata, Taku
dc.contributor.authorPilz, Daniela
dc.contributor.authorPope, Kate
dc.contributor.authorSugita, Katsuo
dc.contributor.authorWhite, Susan M.
dc.contributor.authorWilson, Ian J.
dc.date.accessioned2019-11-27T12:04:44Z
dc.date.available2019-11-27T12:04:44Z
dc.date.issued2015-07-23
dc.description.abstractPurpose: Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It has historically been considered a DNA repair disorder; fibroblasts from classic patients often exhibit impaired transcription-coupled nucleotide excision repair. Previous studies have largely been restricted to case reports and small series, and no guidelines for care have been established. Methods: One hundred two study participants were identified through a network of collaborating clinicians and the Amy and Friends CS support groups. Families with a diagnosis of CS could also self-recruit. Comprehensive clinical information for analysis was obtained directly from families and their clinicians. Results and Conclusion: We present the most complete evaluation of Cockayne syndrome to date, including detailed information on the prevalence and onset of clinical features, achievement of neurodevelopmental milestones, and patient management. We confirm that the most valuable prognostic factor in CS is the presence of early cataracts. Using this evidence, we have created simple guidelines for the care of individuals with CS. We aim to assist clinicians in the recognition, diagnosis, and management of this condition and to enable families to understand what problems they may encounter as CS progresses.en
dc.description.statusPeer revieweden
dc.description.versionPublished Versionen
dc.format.mimetypeapplication/pdfen
dc.identifier.citationWilson, B. T., Stark, Z., Sutton, R. E., Danda, S., Ekbote, A. V., Elsayed, S. M., Gibson, L., Goodship, J. A., Jackson, A. P., Keng, W. T., King, M. D., McCann, E., Motojima, T., Murray, J. E., Omata, T., Pilz, D., Pope, K., Sugita, K., White, S. M. and Wilson, I. J. (2016) 'The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care', Genetics in Medicine, 18(5), pp. 483-493. doi: 10.1038/gim.2015.110en
dc.identifier.doi10.1038/gim.2015.110en
dc.identifier.eissn1530-0366
dc.identifier.endpage493en
dc.identifier.issn1098-3600
dc.identifier.journaltitleGenetics in Medicineen
dc.identifier.startpage483en
dc.identifier.urihttps://hdl.handle.net/10468/9267
dc.identifier.volume18en
dc.language.isoenen
dc.publisherNature Researchen
dc.rights© The Author(s) 2016. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/en
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/en
dc.subjectCerebro-oculofacioskeletal syndromeen
dc.subjectCockayne syndromeen
dc.subjectCSA (ERCC8)en
dc.subjectCSB (ERCC6)en
dc.subjectClinical geneticsen
dc.subjectNeurodevelopment disordersen
dc.subjectPrognosisen
dc.titleThe Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for careen
dc.typeArticle (peer-reviewed)en
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