{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:21:31Z","timestamp":1762161691270,"version":"3.40.5"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T00:00:00Z","timestamp":1645833600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000098","name":"NIH Clinical Center","doi-asserted-by":"publisher","award":["NIH CORE Grant P30 EY08098"],"award-info":[{"award-number":["NIH CORE Grant P30 EY08098"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","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":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants of <jats:italic>ADAMTSL4<\/jats:italic> are associated with autosomal recessive ectopia lentis et pupillae and isolated ectopia lentis, often presenting congenitally or in childhood. We describe a pedigree of a 4\u2010year\u2010old female child with bilateral ectopia lentis and her asymptomatic 35\u2010year\u2010old father with mild anterior segment findings. Molecular evaluation revealed compound heterozygosity for <jats:italic>ADAMTSL4<\/jats:italic> pathogenic variants in the proband and homozygosity for an <jats:italic>ADAMTSL4<\/jats:italic> pathogenic founder mutation in her father. The results of genetic testing revealed a pseudodominant inheritance pattern in the family. This case expands variability of <jats:italic>ADAMTSL4\u2010<\/jats:italic>related ectopia lentis through the first description of an asymptomatic adult in the 4th decade and highlights importance of clinical and molecular evaluations of family members when investigating genetic disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.62698","type":"journal-article","created":{"date-parts":[[2022,2,26]],"date-time":"2022-02-26T10:34:31Z","timestamp":1645871671000},"page":"1853-1857","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<scp><i>ADAMTSL4<\/i>\u2010related<\/scp> ectopia lentis: A case of pseudodominance with an asymptomatic parent"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4004-3959","authenticated-orcid":false,"given":"Hannah L.","family":"Scanga","sequence":"first","affiliation":[{"name":"Division of Pediatric Ophthalmology, Strabismus, and Adult Motility UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5616-5275","authenticated-orcid":false,"given":"Ken K.","family":"Nischal","sequence":"additional","affiliation":[{"name":"Division of Pediatric Ophthalmology, Strabismus, and Adult Motility UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"UPMC Eye Center University of Pittsburgh Medical Center  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,2,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.01.007"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21305"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.12-9874"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-5597"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9505"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.79.2.135"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-5955"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-011-0780-9"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2015.05.004"},{"key":"e_1_2_8_12_1","first-page":"1017","article-title":"Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis","volume":"20","author":"Li J.","year":"2014","journal-title":"Molecular Vision"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-5740"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37157"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.06.005"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015\/11.011"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2012-302367"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2017.1309552"}],"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.62698","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62698","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62698","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T23:44:10Z","timestamp":1693007050000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,26]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1002\/ajmg.a.62698"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62698","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2022,2,26]]},"assertion":[{"value":"2021-09-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}