{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:05:31Z","timestamp":1753869931997,"version":"3.41.2"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Discovery"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>ERCC5<\/jats:italic> gene can lead to different clinical phenotypes, few articles have reported the clinical phenotypes in detail and explained the relationship between genotype and phenotype. The clinical data of cases with <jats:italic>ERCC5<\/jats:italic> gene mutations diagnosed in our center and reported in previous studies were collected. The cases were divided into three groups based on phenotype; the differences of clinical manifestation and genotype among groups were analyzed. Genetic tests showed a complex heterozygous mutation of the <jats:italic>ERCC5<\/jats:italic> gene with paternal C.402_C.403 (exon 4) insA (p.T135Nfs*28) and maternal C.1096 (exon 8) C\u00a0&gt;\u00a0T (p.R366X.821) in our case. The gene mutation has not been reported and was predicted to seriously affect the protein structure. According to a review of 59 cases of <jats:italic>ERCC5<\/jats:italic> mutations, cerebrooculofacioskeletal syndrome (COFS) occurred in 16 cases, XP in 19 cases, and XP\/CS in 24 cases. The incidence of physical retardation, mental retardation, peripheral neuropathy, magnetic resonance abnormalities and fundus\/vision abnormalities in XP\/CS patients was significantly higher than that in XP patients. In addition, patients with the XP\/CS phenotype were more prone to appearance abnormalities, deafness, and epilepsy, and cheilitis and tumors were more common in patients with the XP phenotype, but the differences were not significant. XP\/CS can cause abnormal liver function and even fatality, which should be given attention. <jats:italic>ERCC5<\/jats:italic> mutation\u2010related diseases were characterized by mild to severe clinical phenotypes. In addition to tumors, liver function should be considered in <jats:italic>ERCC5<\/jats:italic>\u2010related diseases, and patients should be cautious with medication to avoid drug\u2010induced liver injury.<\/jats:p>","DOI":"10.1002\/pdi3.71","type":"journal-article","created":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T11:54:16Z","timestamp":1719834856000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The clinical spectrum associated with ERCC5 mutations: Is there a relationship between phenotype and genotype?"],"prefix":"10.1002","volume":"2","author":[{"given":"Jinpeng","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Infection Children's Hospital of Chongqing Medical University National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Infection and Immunity  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiannan","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Chongqing Key Laboratory of Pediatrics  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuanyuan","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Chongqing Key Laboratory of Pediatrics  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siqi","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Chongqing Key Laboratory of Pediatrics  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Chongqing Key Laboratory of Pediatrics  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1239-1478","authenticated-orcid":false,"given":"Tianyi","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University National Clinical Research Center for Child Health and Disorders Ministry of Education Key Laboratory of Child Development and Disorders Chongqing Key Laboratory of Pediatrics  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1519444113"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.13576"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2006.07272.x"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20392"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/120347549800200308"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0408-0"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.352"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000871"},{"key":"e_1_2_12_10_1","first-page":"185","article-title":"Xeroderma pigmentosum complementation group G associated with Cockayne syndrome","volume":"53","author":"Vermeulen W","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200103000-00016"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61520"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00111"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdcr.2014.12.004"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1987.tb04906.x"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22259"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13429"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2012.01446.x"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.01782.x"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291378"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2013.54"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01673.x"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12584287"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.24.10670-10680.2004"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/phpp.12283"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12325"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13035"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.13554"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16405"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13364"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1086\/321295"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.057141"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1086\/512486"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1086\/302867"},{"key":"e_1_2_12_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-022-04194-5"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1177\/1533033820943244"},{"key":"e_1_2_12_37_1","first-page":"3664","article-title":"High expression of ERCC5 predicts a poor prognosis in hepatocellular carcinoma","volume":"11","author":"Zheng X","year":"2018","journal-title":"Int J Clin Exp Pathol"}],"container-title":["Pediatric Discovery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pdi3.71","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,25]],"date-time":"2024-12-25T02:21:55Z","timestamp":1735093315000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pdi3.71"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7]]},"references-count":36,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1002\/pdi3.71"],"URL":"https:\/\/doi.org\/10.1002\/pdi3.71","archive":["Portico"],"relation":{},"ISSN":["2835-558X","2835-5598"],"issn-type":[{"type":"print","value":"2835-558X"},{"type":"electronic","value":"2835-5598"}],"subject":[],"published":{"date-parts":[[2024,7]]},"assertion":[{"value":"2023-11-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e71"}}