{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T16:20:52Z","timestamp":1787847652292,"version":"build-2784847793"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Cockayne syndrome is an autosomal recessive disorder caused by biallelic mutations in ERCC6 or ERCC8 genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims:<\/jats:title>\n                    <jats:p>To study the clinical and mutation spectrum of Cockayne syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting and Design:<\/jats:title>\n                    <jats:p>Medical Genetics Outpatient Department of Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow. This was a prospective study from 2007 to 2015.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>Clinical details were recorded, and sequencing of ERCC6 and ERCC8 were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results and Conclusions:<\/jats:title>\n                    <jats:p>Of the six families, one family had a homozygous mutation in ERCC8 and the other five families had homozygous mutations in ERCC6. Novel variants in ERCC6 were identified in four families. Phenotypic features may vary from severe to mild, and a strong clinical suspicion is needed for diagnosis during infancy or early childhood. Hence, molecular diagnosis is needed for confirmation of diagnosis in a child with a suspicion of Cockayne syndrome. Prenatal diagnosis can be provided only if molecular diagnosis is established in the proband.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0028-3886.314579","type":"journal-article","created":{"date-parts":[[2021,4,26]],"date-time":"2021-04-26T01:30:50Z","timestamp":1619400650000},"page":"362-366","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":11,"title":["Clinical and Mutation Spectra of Cockayne Syndrome in India"],"prefix":"10.4103","volume":"69","author":[{"given":"Dhanya L","family":"Narayanan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moni","family":"Tuteja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam D","family":"McIntyre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A","family":"Hegele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadege","family":"Calmels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy","family":"Obringer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Laugel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kausik","family":"Mandal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubha R","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-24-20240907","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/ajmg.1320420115","article-title":"Cockayne syndrome: Review of 140 cases","volume":"42","author":"Nance","year":"1992","journal-title":"Am J Med Genet"},{"key":"R2-24-20240907","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1002\/ajmg.a.33933","article-title":"A comprehensive description of the severity groups in Cockayne syndrome","volume":"155","author":"Natale","year":"2011","journal-title":"Am J Med Genet A"},{"key":"R3-24-20240907","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/gim.2015.110","article-title":"The Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for care","volume":"18","author":"Wilson","year":"2016","journal-title":"Genet Med"},{"key":"R4-24-20240907","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.dnarep.2008.01.014","article-title":"Incidence of DNA repair deficiency disorders in western Europe: Xerodermapigmentosum, Cockayne syndrome and trichothiodystrophy","volume":"7","author":"Kleijer","year":"2008","journal-title":"DNA Repair (Amst"},{"key":"R5-24-20240907","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.mad.2013.02.006","article-title":"Cockayne syndrome: The expanding clinical and mutational spectrum","volume":"134","author":"Laugel","year":"2013","journal-title":"Mech Ageing Dev"},{"key":"R6-24-20240907","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/humu.21154","article-title":"Mutation update for the CSB\/ERCC6 and CSA\/ERCC8 genes involved in Cockayne syndrome","volume":"31","author":"Laugel","year":"2010","journal-title":"Hum Mutat"},{"key":"R7-24-20240907","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/s10038-003-0107-2","article-title":"CKN1 (MIM 216400): Mutations in Cockayne syndrome type A and a new common polymorphism","volume":"49","author":"Cao","year":"2004","journal-title":"J Hum Genet"},{"key":"R8-24-20240907","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human Splicing Finder: An online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acid Res"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.314579","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T15:26:31Z","timestamp":1787844391000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.314579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.314579","relation":{},"ISSN":["0028-3886"],"issn-type":[{"value":"0028-3886","type":"print"}],"subject":[],"published":{"date-parts":[[2021,3]]}}}