{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T04:08:33Z","timestamp":1747714113606,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T00:00:00Z","timestamp":1729555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100013365","name":"West China Hospital, Sichuan University","doi-asserted-by":"publisher","award":["ZYJC20002"],"award-info":[{"award-number":["ZYJC20002"]}],"id":[{"id":"10.13039\/501100013365","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biallelic variants in the <jats:italic>LSS<\/jats:italic> gene have been reported in individuals affected by alopecia\u2010intellectual disability syndrome 4, cataract 44, hypotrichosis 14, and palmoplantar keratoderma\u2010congenital alopecia syndrome type 2. The present report described a Chinese girl with congenital alopecia universalis, cataract, esotropia, and nystagmus caused by compound heterozygous variants of c.1025T&gt;G (p.Ile342Ser) and previously unreported c.1011G&gt;A (p.Pro337=) in the <jats:italic>LSS<\/jats:italic> gene. Minigene assay confirmed the synonymous variant Pro337= at the edge of exon 9 could produce a novel splice site, leading to a 46\u2010bp insertion of the 5\u2032 sequence of the intron 9, likely resulting in a frameshift effect. We consider that the clinical manifestations of this case represent a new type of <jats:italic>LSS\u2010<\/jats:italic>related disease, namely congenital alopecia\u2010cataract syndrome (CACS). Our data expand the phenotypic and genetic spectrum of <jats:italic>LSS<\/jats:italic>\u2010related diseases.<\/jats:p>","DOI":"10.1111\/1346-8138.17514","type":"journal-article","created":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T12:30:34Z","timestamp":1729600234000},"page":"531-535","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Biallelic pathogenic variants in the <i>LSS<\/i> gene cause congenital alopecia\u2010cataract syndrome"],"prefix":"10.1111","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2662-743X","authenticated-orcid":false,"given":"Yusha","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengyu","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"Geng","sequence":"additional","affiliation":[{"name":"Institute of Rare Diseases, West China Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3804-8256","authenticated-orcid":false,"given":"Zhongtao","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, State Key Laboratory of Biotherapy, West China Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, West China Hospital Sichuan University  Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14650"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1538\/expanim.56.93"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2022.03.023"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.18315"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.011"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0445-x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2017-0101"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63355"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2320"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1995.2110"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.01.052"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62438"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15320"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.14774"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.15679"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.17514","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T17:23:24Z","timestamp":1747675404000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.17514"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,22]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1111\/1346-8138.17514"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.17514","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"type":"print","value":"0385-2407"},{"type":"electronic","value":"1346-8138"}],"subject":[],"published":{"date-parts":[[2024,10,22]]},"assertion":[{"value":"2024-09-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}