{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:48:50Z","timestamp":1777438130196,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T00:00:00Z","timestamp":1699574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Patients with biallelic variants in the lanosterol synthase (<jats:italic>LSS<\/jats:italic>) gene has been reported to exhibit phenotypes as follows: non\u2010syndromic form of hypotrichosis, congenital cataracts, and alopecia with intellectual disability or growth retardation. However, genotype\u2013phenotype correlations in the <jats:italic>LSS<\/jats:italic> gene are still not completely clear.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we reported a Chinese girl who had congenital cataracts with hypotrichosis. The trio exome sequencing was performed to elucidate the genetic cause of the patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified compound heterozygous variants (<jats:italic>c.296G&gt;A, p.G99D<\/jats:italic> and <jats:italic>c.1025T&gt;G, p.I342S<\/jats:italic>) in the <jats:italic>LSS<\/jats:italic> gene. Both variants altered the amino acid coding at highly conserved amino acid residues and were predicted to be deleterious using prediction software.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our report expands the spectrum of variants in the <jats:italic>LSS<\/jats:italic> gene and will be helpful for genotype\u2013phenotype correlations study.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2320","type":"journal-article","created":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T10:00:24Z","timestamp":1699610424000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the <scp><i>LSS<\/i><\/scp> gene"],"prefix":"10.1002","volume":"12","author":[{"given":"Yu","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital, Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education, Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huan","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital, Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education, Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingqun","family":"Mai","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital, Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education, Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"He","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital, Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education, Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6200-5865","authenticated-orcid":false,"given":"Mei","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital, Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education, Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanling","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics West China Second University Hospital, Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children Ministry of Education, Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,10]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100445\u2010x"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62438"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem\u20102017\u20100101"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.15697"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1133276"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.15010"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.15679"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.84"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.011"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2008.290"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008628"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14650"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2320","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T12:24:35Z","timestamp":1706531075000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,10]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/mgg3.2320"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2320","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,10]]},"assertion":[{"value":"2023-06-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2320"}}