{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T03:21:35Z","timestamp":1764645695659,"version":"3.41.2"},"reference-count":22,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T00:00:00Z","timestamp":1692230400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82073422","82273504"],"award-info":[{"award-number":["82073422","82273504"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cockayne syndrome (CS, OMIM #133540, #216400) is a rare autosomal recessive disease involving multiple systems, typically characterized by microcephaly, premature aging, growth retardation, neurosensory abnormalities, and photosensitivity. The age of onset is related to the severity of the clinical phenotype, which may lead to fatal outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a 3\u2010year\u2010old girl who presented with photosensitivity, gait abnormalities, stunting, and microcephaly and showed atypical clinical classification due to mild clinical manifestations at an early onset age.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Next\u2010generation sequencing reveals the frameshift mutation (c.394_398del, p.Leu132Asnfs*6) and a novel microdeletion of <jats:italic>ERCC8<\/jats:italic> (exon4del, p.Arg92fs).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Therefore, it is still necessary to carry out next\u2010generation sequencing for CS patients with atypical clinical manifestations, which is essential for diagnosis and accurate genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2254","type":"journal-article","created":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T04:49:40Z","timestamp":1692420580000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Next\u2010generation sequencing through multi\u2010gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3714-8597","authenticated-orcid":false,"given":"Xinyi","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Department of Dermatology Children's Hospital of Fudan University, National Children's Medical Center  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Huashan Hospital of Fudan University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anqi","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Department of Dermatology Children's Hospital of Fudan University, National Children's Medical Center  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumeng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Xinhua Hospital Shanghai Jiaotong University School of Medicine  Shanghai China"},{"name":"Department of Dermatology Children's Hospital of Fudan University, National Children's Medical Center  Shanghai 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