{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:16:54Z","timestamp":1777727814415,"version":"3.51.4"},"reference-count":30,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2019,9,26]],"date-time":"2019-09-26T00:00:00Z","timestamp":1569456000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100015798","name":"Suzhou Key Medical Center","doi-asserted-by":"crossref","award":["SZZX201505"],"award-info":[{"award-number":["SZZX201505"]}],"id":[{"id":"10.13039\/100015798","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100010854","name":"Jiangsu Provincial commission of health and family planning","doi-asserted-by":"crossref","award":["H2017073"],"award-info":[{"award-number":["H2017073"]}],"id":[{"id":"10.13039\/501100010854","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Jiangsu Maternal and Children health care key discipline","award":["FXK201748"],"award-info":[{"award-number":["FXK201748"]}]},{"name":"Jiangsu Maternal and Children health care research project","award":["F201603"],"award-info":[{"award-number":["F201603"]}]},{"name":"Jiangsu Province Association of Maternal and Child Health Project","award":["FYX201603"],"award-info":[{"award-number":["FYX201603"]}]},{"name":"Suzhou Introduced Project of Clinical Medical Expert Team","award":["SZYJTD201708"],"award-info":[{"award-number":["SZYJTD201708"]}]},{"name":"Suzhou Industry Technology Innovation Project","award":["SYS201770"],"award-info":[{"award-number":["SYS201770"]}]},{"name":"Suzhou Industry Technology Innovation Project","award":["SYSD2018119"],"award-info":[{"award-number":["SYSD2018119"]}]},{"name":"Jiangsu Provincial Medical Innovation Team","award":["CXTDB2017013"],"award-info":[{"award-number":["CXTDB2017013"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To confirm diagnosis and explore the genetic aetiology in a Chinese patient suspected to have Cockayne syndrome (CS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The patient was clinically examined, and the patient and her biological parents underwent genetic analysis using whole exome sequencing (WES) and Sanger sequencing. The foetus of the patient\u2019s mother underwent prenatal diagnostic Sanger sequencing using amniotic fluid obtained at 19 weeks\u2019 gestation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Clinical examination of the patient showed developmental delay, progressive neurologic dysfunction and premature aging. Two compound, heterozygous ERCC excision repair 6, chromatin remodelling factor ( ERCC6) gene mutations were detected in the proband by WES and confirmed by Sanger sequencing, comprising a known paternal nonsense mutation (c.643G\u2009&gt;\u2009T, p.E215X) and a novel maternal short insertion and deletion mutation (c.1614_c.1616delGACinsAAACGTCTT, p.K538_T539delinsKNVF). The patient was consequently diagnosed with CS type I. The foetus of the patient\u2019s mother was found to carry only the maternally-derived c.1614_c.1616delGACinsAAACGTCTT variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study emphasized the value of WES in clinical diagnosis, and enriched the known spectrum of ERCC6 gene mutations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0300060519877997","type":"journal-article","created":{"date-parts":[[2019,9,27]],"date-time":"2019-09-27T01:13:16Z","timestamp":1569546796000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Two heterozygous mutations in the\n                    <i>ERCC6<\/i>\n                    gene associated with Cockayne syndrome in a Chinese patient"],"prefix":"10.1177","volume":"48","author":[{"given":"Qin","family":"Zhang","sequence":"first","affiliation":[{"name":"Centre for Reproduction and Genetics, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China"},{"name":"Centre for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minjuan","family":"Liu","sequence":"additional","affiliation":[{"name":"Centre for Reproduction and Genetics, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China"},{"name":"Centre for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yinghua","family":"Liu","sequence":"additional","affiliation":[{"name":"Centre for Reproduction and Genetics, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China"},{"name":"Centre for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Tang","sequence":"additional","affiliation":[{"name":"Centre for Reproduction and Genetics, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China"},{"name":"Centre for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9477-1951","authenticated-orcid":false,"given":"Ting","family":"Wang","sequence":"additional","affiliation":[{"name":"Centre for Reproduction and Genetics, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China"},{"name":"Centre for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Li","sequence":"additional","affiliation":[{"name":"Centre for Reproduction and Genetics, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China"},{"name":"Centre for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7191-7156","authenticated-orcid":false,"given":"Jingjing","family":"Xiang","sequence":"additional","affiliation":[{"name":"Centre for Reproduction and Genetics, the Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China"},{"name":"Centre for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2019,9,26]]},"reference":[{"key":"bibr1-0300060519877997","doi-asserted-by":"publisher","DOI":"10.1136\/adc.11.61.1"},{"key":"bibr2-0300060519877997","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420115"},{"key":"bibr3-0300060519877997","doi-asserted-by":"publisher","DOI":"10.1016\/j.mad.2013.02.006"},{"key":"bibr4-0300060519877997","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.110"},{"key":"bibr5-0300060519877997","volume-title":"GeneReviews\u00ae [Internet]","author":"Laugel V.","year":"2000"},{"key":"bibr6-0300060519877997","unstructured":"Hafsi W, Badri T. 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