{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:30:57Z","timestamp":1787319057271,"version":"build-2736575974"},"reference-count":8,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T00:00:00Z","timestamp":1661126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) syndrome is a rare autosomal recessive disease. In this study we reported the first Chinese patient with FILS syndrome. The patient had short stature and suffered from recurrent respiratory infections up to the age of 4 years. Other symptoms of the disease included livedo on the inner side of upper limbs and thigh skin, prominent forehead, low anterior and posterior hairline, short and down-slanting palpebral fissure, low-set ears, long nasal tip and columella, and a small mouth with irregular teeth. A whole exome sequencing (WES) was performed and revealed two variants within the polymerase \u03b5 (\n                    <jats:italic>POLE<\/jats:italic>\n                    ) gene. One of the variants was a splicing variant (c.5811 + 2T &amp;gt; C) derived from the mother, while the other was a nonsense variant (c.2006G &amp;gt; A) derived from the father. These two variants were not reported in previous FILS syndrome cases. Therefore this case provides further insight into the\n                    <jats:italic>POLE<\/jats:italic>\n                    gene variant spectrum that enriches the clinical phenotype.\n                  <\/jats:p>","DOI":"10.3389\/fped.2022.933108","type":"journal-article","created":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T02:01:44Z","timestamp":1661133704000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome"],"prefix":"10.3389","volume":"10","author":[{"given":"Lihong","family":"Jiang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaqi","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meilin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Bo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geli","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1002\/iub.1276","article-title":"DNA polymerase \u03b5 and its roles in genome stability.","volume":"66","author":"Henninger","year":"2014","journal-title":"IUBMB Life."},{"key":"B2","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1016\/j.tcb.2008.08.005","article-title":"Dividing the workload at a eukaryotic replication fork.","volume":"18","author":"Kunkel","year":"2008","journal-title":"Trends Cell Biol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"2323","DOI":"10.1084\/jem.20121303","article-title":"Polymerase \u03b51 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (\u201cFILS syndrome\u201d).","volume":"209","author":"Pachlopnik Schmid","year":"2014","journal-title":"J Exp Med."},{"key":"B4","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1186\/s12881-015-0177-y","article-title":"A patient with polymerase E1 deficiency (POLE1): Clinical features and overlap with DNA breakage\/instability syndromes.","volume":"16","author":"Thiffault","year":"2015","journal-title":"BMC Med Genet."},{"key":"B5","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1111\/pde.14274","article-title":"Filling in the gaps on FILS syndrome: A case report and literature review.","volume":"37","author":"Eason","year":"2020","journal-title":"Pediatr Dermatol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1002\/path.4185","article-title":"Germline and somatic polymerase \u03b5 and \u03b4 mutations define a new class of hypermutated colorectal and endometrial cancers.","volume":"230","author":"Briggs","year":"2013","journal-title":"J Pathol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1038\/gim.2015.75","article-title":"POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and\/or polyposis: Review of reported cases and recommendations for genetic testing and surveillance.","volume":"18","author":"Bellido","year":"2016","journal-title":"Genet Med."},{"key":"B8","doi-asserted-by":"publisher","first-page":"707.e","DOI":"10.1016\/j.molcel.2018.04.008","article-title":"Pol\u03b5 instability drives replication stress, abnormal development, and tumorigenesis.","volume":"70","author":"Bellelli","year":"2018","journal-title":"Mol Cell."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.933108\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,22]],"date-time":"2022-08-22T02:01:50Z","timestamp":1661133710000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.933108\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,22]]},"references-count":8,"alternative-id":["10.3389\/fped.2022.933108"],"URL":"https:\/\/doi.org\/10.3389\/fped.2022.933108","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,22]]},"article-number":"933108"}}