{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T10:27:33Z","timestamp":1772706453323,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T00:00:00Z","timestamp":1703203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Rothmund\u2013Thomson syndrome (RTS) is a rare autosomal recessive disorder that has been reported in all ethnicities, with several identifiable pathogenic variants. There have been reported cases indicating that RTS may lead to low birth weight in fetuses, but specific data on the fetal period are lacking. Genetic testing for RTS II is currently carried out by identifying pathogenic variants in <jats:italic>RECQL4<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In order to determine the cause, we performed whole\u2010genome sequencing (WGS) analysis on the patient and his parents. Variants detected by WGS were confirmed by Sanger sequencing and examined in family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After analyzing the WGS data, we found a heterozygous nonsense mutation c.2752G&gt;T (p.Glu918Ter) and a novel frameshift insertion mutation c.1547dupC (p.Leu517AlafsTer23) of <jats:italic>RECQL4<\/jats:italic>, which is a known pathogenic\/disease\u2010causing variant of RTS. Further validation indicated these were compound heterozygous mutations from parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study expands the mutational spectrum of the <jats:italic>RECQL4<\/jats:italic> gene and enriches the phenotype spectrum of Chinese RTS patients. Our information can assist the patient's parents in making informed decisions regarding their future pregnancies. This case offers a new perspective for clinicians to consider whether to perform prenatal diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2347","type":"journal-article","created":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T13:35:16Z","timestamp":1703252116000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Chinese patient with <scp>Rothmund\u2013Thomson<\/scp> syndrome"],"prefix":"10.1002","volume":"12","author":[{"given":"Juan","family":"Zeng","sequence":"first","affiliation":[{"name":"Obstetrics Department Shenzhen Maternity and Child Healthcare Hospital  Shenzhen Guangdong Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayi","family":"Li","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"},{"name":"College of Life Sciences University of Chinese Academy of Sciences  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuwei","family":"Liu","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"},{"name":"College of Life Sciences University of Chinese Academy of Sciences  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Liang","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Wang","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Zhou","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinghua","family":"Sun","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongzhen","family":"Liu","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4527-1168","authenticated-orcid":false,"given":"Wen\u2010Jing","family":"Wang","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sujun","family":"Zhu","sequence":"additional","affiliation":[{"name":"Obstetrics Department Shenzhen Maternity and Child Healthcare Hospital  Shenzhen Guangdong Province China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.06.011"},{"key":"e_1_2_11_4_1","unstructured":"Aym\u00e9 S.Schmidtke [Internet] The portal for rare diseases and orphan drugs.2023. [cited 2023 Jan 12].https:\/\/www.orpha.net\/consor\/cgi\u2010bin\/index.php."},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00590-20"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_11_7_1","unstructured":"Exome Variant Server.NHLBI GO Exome Sequencing Project (ESP).2022. [cited 2022 Oct 31].http:\/\/evs.gs.washington.edu\/EVS\/"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz836"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/FM9.0000000000000158"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.295063"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.02.047"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg254"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1254\/fpj.119.219"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232112853"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2021.101148"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5959"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5595"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa1043"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz972"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.260"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-2"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5192"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0085096"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2010.01.006"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.640755"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2436"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi075"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005160"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks591"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1177\/1176934318760543"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.05.015"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.1.308"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22225"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.154"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/95.9.669"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1<11::AID-AJMG1413>3.0.CO;2-A"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1086\/341234"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2009.13"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1684017"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.16015"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2347","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T12:27:17Z","timestamp":1706531237000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2347"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,22]]},"references-count":43,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/mgg3.2347"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2347","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,22]]},"assertion":[{"value":"2023-04-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2347"}}