{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T15:16:14Z","timestamp":1760800574312,"version":"3.41.2"},"reference-count":35,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T00:00:00Z","timestamp":1662422400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82000006"],"award-info":[{"award-number":["82000006"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["LQ20H010003"],"award-info":[{"award-number":["LQ20H010003"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Interstitial lung diseases (ILDs) are common respiratory diseases with limited treatment options and poor prognoses. Early and accurate diagnosis of ILD is challenging and requires a multidisciplinary discussion. We report a 32\u2010year\u2010old patient admitted to our hospital with cough and increasing dyspnea on exertion. Computerized tomography scan of his chest demonstrated diffuse interstitial abnormalities, emphysematous changes, and a pneumothorax. Whole\u2010exome sequencing (WES) and Sanger sequencing indicated a compound mutation of heterozygosity in RTEL1 gene c.2992C\u2009&gt;\u2009T(p.Arg998*) and c.482T\u2009&gt;\u2009C(p.Val161Ala). In\u2010silicon analysis revealed the pathogenic nonsense mutation c.2992C\u2009&gt;\u2009T, which introduced a premature stop codon in exon 30 of RTEL1. The patient is still alive with progressive dyspnea to now. We reviewed the pathophysiology of ILD patients carrying RTEL1 mutations and the roles of RTEL1 mutation in guiding treatment and prognostication in ILD.<\/jats:p>","DOI":"10.1002\/rcr2.1032","type":"journal-article","created":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T09:29:09Z","timestamp":1662456549000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Compound heterozygous mutation of <scp>RTEL1<\/scp> in interstitial lung disease complicated with pneumothorax and emphysema: A case report and literature review"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2393-102X","authenticated-orcid":false,"given":"Man","family":"Luo","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine, Affiliated Hangzhou First People's Hospital Zhejiang University School of Medicine  Hangzhou China"},{"name":"Department of Translation Medicine Center, Key Laboratory of Clinical Cancer Pharmacology and Toxicology Research of Zhejiang Province, Affiliated Hangzhou First People's Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiao\u2010Li","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Affiliated Hangzhou First People's Hospital Zhejiang University School of Medicine  Hangzhou China"},{"name":"Department of Translation Medicine Center, Key Laboratory of Clinical Cancer Pharmacology and Toxicology Research of Zhejiang Province, Affiliated Hangzhou First People's Hospital Zhejiang University School of Medicine  Hangzhou China"},{"name":"The Fourth Clinical Medical College of Zhejiang Chinese Medical University  Hangzhou China"},{"name":"Zhejiang University Cancer Center  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1183\/16000617.0076-2018"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(11)60405-4"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1402582"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(16)30326-5"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2019.04.016"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1402584"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12890-019-1030-4"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2018.11.012"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00017-5"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201408-1510OC"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00040115"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3278"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.08.016"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00508-2018"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03819-2"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.167056"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200804-550OC"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00308-2016"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2016.05.009"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCP.0000000000000506"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1080\/17474086.2019.1662720"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12890-021-01645-w"},{"issue":"13","key":"e_1_2_9_24_1","first-page":"7239","article-title":"Full length RTEL1 is required for the elongation of the single\u2010stranded telomeric overhang by telomerase","volume":"48","author":"Awad A","year":"2020","journal-title":"Nucleic Acids Res"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1241779"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1504780112"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(18)30135-8"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.03198-2020"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01875-2017"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2017.05.009"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.02115-2015"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0825OC"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00060014"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2014.11.010"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2017.02.005"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajt.16893"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.1032","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/rcr2.1032","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.1032","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T23:43:35Z","timestamp":1692661415000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.1032"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,6]]},"references-count":35,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1002\/rcr2.1032"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.1032","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"type":"print","value":"2051-3380"},{"type":"electronic","value":"2051-3380"}],"subject":[],"published":{"date-parts":[[2022,9,6]]},"assertion":[{"value":"2022-05-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e01032"}}