{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T18:14:28Z","timestamp":1790100868508,"version":"4.0.1"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T00:00:00Z","timestamp":1661126400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82170717"],"award-info":[{"award-number":["82170717"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873594"],"award-info":[{"award-number":["81873594"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>BCS1L<\/jats:italic> pathogenic variants cause widely different clinical phenotypes. Disease phenotypes can be as mild as Bj\u00f6rnstad syndrome, characterized by pili torti (abnormal flat twisted hair shafts) and sensorineural hearing loss, or as severe as GRACILE syndrome, characterized by growth restriction, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death. <jats:italic>BCS1L<\/jats:italic> pathogenic variants are also linked to an undefined complex III deficiency, a heterogeneous condition generally involving renal and hepatic pathologies, hypotonia, and developmental delays. So far, all patients with GRACILE syndrome carry a homozygous p.Ser78Gly variant in <jats:italic>BCS1L<\/jats:italic> gene by reviewing articles. A 24\u2010day\u2010old boy presented with typical clinical phenotype of GRACILE syndrome. The Whole Exome Sequencing confirmed that the patient had a missense variant (c.245C\u2009&gt;\u2009T, p.Ser82Leu) and a small deletion (c.231_232delCA, p. Ser78Cysfs*9) in <jats:italic>BCS1L<\/jats:italic> gene inherited from his father and mother separately, he died at 5\u00a0months of age. We reported a patient with GRACILE syndrome and identified two novel variants in <jats:italic>BCS1L<\/jats:italic> gene. Our study expands the mutational spectrum of <jats:italic>BCS1L<\/jats:italic> gene associated with GRACILE syndrome and will be beneficial for genetic diagnosis.<\/jats:p>","DOI":"10.1111\/nep.14086","type":"journal-article","created":{"date-parts":[[2022,8,12]],"date-time":"2022-08-12T13:35:25Z","timestamp":1660311325000},"page":"810-814","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of two novel variants of <scp><i>BCS1L<\/i><\/scp> gene in a patient with classical <scp>GRACILE<\/scp> syndrome"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5190-9666","authenticated-orcid":false,"given":"Wencong","family":"Guo","sequence":"first","affiliation":[{"name":"Laboratory of Nephrology &amp; department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingfei","family":"Shao","sequence":"additional","affiliation":[{"name":"Wenzhou Medical University Renji College  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanhua","family":"Lang","sequence":"additional","affiliation":[{"name":"Department of Nursing The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Eighth People's Hospital of Qingdao  Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Affiliated Hospital of Qingdao University  Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4341-6930","authenticated-orcid":false,"given":"Xuyan","family":"Liu","sequence":"additional","affiliation":[{"name":"Laboratory of Nephrology &amp; department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruixiao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Laboratory of Nephrology &amp; department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3493-2714","authenticated-orcid":false,"given":"Leping","family":"Shao","sequence":"additional","affiliation":[{"name":"Laboratory of Nephrology &amp; department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University  Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055262"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/342773"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51470"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz202"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61019"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2012.04.019"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.07.007"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.3109\/0886022X.2014.900422"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.24953\/turkjped.2016.06.013"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.14086","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.14086","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.14086","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T01:24:22Z","timestamp":1692753862000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.14086"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,22]]},"references-count":9,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2022,10]]}},"alternative-id":["10.1111\/nep.14086"],"URL":"https:\/\/doi.org\/10.1111\/nep.14086","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,22]]},"assertion":[{"value":"2022-05-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}