{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T18:55:14Z","timestamp":1789671314189,"version":"4.0.1"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T00:00:00Z","timestamp":1689552000000},"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":["82171056"],"award-info":[{"award-number":["82171056"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital cataract is the most common cause of lifelong visual loss in children worldwide, which has significant genotypic and phenotypic heterogeneity. The <jats:italic>LSS<\/jats:italic> gene encodes lanosterol synthase (LSS), which acts on the cholesterol biosynthesis pathway by converting (<jats:italic>S<\/jats:italic>)\u20102,3\u2010oxidosqualene to lanosterol. The biallelic pathogenic variants in the <jats:italic>LSS<\/jats:italic> gene were found in congenital cataract, Alopecia\u2010intellectual disability syndrome, hypotrichosis simplex, and mutilating palmoplantar keratoderma. In this study, we reported the first congenital nuclear cataract combined with hypotrichosis in a 12\u2010year\u2010old boy with biallelic <jats:italic>LSS<\/jats:italic> variants (c.1025T&gt;G; p.I342S and c.1531_1532insT; p.L511Ffs*17) by exome sequencing. Reviewing all reported patients with <jats:italic>LSS<\/jats:italic> variants indicated that p.W629 might be a hotspot for hypospadias and p.I342S was associated with congenital cataract. Patients with one or two truncation variants tend to have multisystem symptoms compared with those with two missense variants. These findings deepen the understanding of <jats:italic>LSS<\/jats:italic> variants and contribute to the genetic counseling of affected families.<\/jats:p>","DOI":"10.1002\/ajmg.a.63355","type":"journal-article","created":{"date-parts":[[2023,7,17]],"date-time":"2023-07-17T07:00:40Z","timestamp":1689577240000},"page":"2398-2401","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A case of <i>LSS<\/i>\u2010associated congenital nuclear cataract with hypotrichosis and literature review"],"prefix":"10.1002","volume":"191","author":[{"given":"Dongwei","family":"Guo","sequence":"first","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7508-848X","authenticated-orcid":false,"given":"Qingjiong","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0445-x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.1999.123"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2017-0101"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-3149"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-13927"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-14880"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.011"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.01.052"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2016.156"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2016.06.011"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008628"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2022.03.023"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14650"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63355","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T07:45:59Z","timestamp":1692690359000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63355"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,17]]},"references-count":13,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/ajmg.a.63355"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63355","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,17]]},"assertion":[{"value":"2023-04-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}