{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T22:21:24Z","timestamp":1740176484270,"version":"3.37.3"},"reference-count":13,"publisher":"Cold Spring Harbor Laboratory","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"accepted":{"date-parts":[[2021,12,9]]},"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>Variants in the<jats:italic>PAX6<\/jats:italic>gene have been associated with ophthalmologic, neurologic, and pancreatic differences. We report on a proband, mother, and affected brother who presented with congenital cataracts and glaucoma at a young age. Nonocular findings are also reported among these family members. After a congenital cataracts next-generation sequencing (NGS) gene panel was found to be nondiagnostic in 2016, a more expanded panel in 2020 revealed a novel variant: c.178T &gt; A; p.Tyr60Asn in exon 6 of the<jats:italic>PAX6<\/jats:italic>gene in the proband. The variant is also present in the affected mother and affected brother; it is absent in an unaffected brother. The clinical findings of these three relatives, in conjunction with their genetic testing and the associated<jats:italic>PAX6<\/jats:italic>features reported in the literature, suggest that this novel familial variant may be an underlying etiology for these individuals\u2019 ophthalmologic, pancreatic, and olfactory symptoms.<\/jats:p>","DOI":"10.1101\/mcs.a006149","type":"journal-article","created":{"date-parts":[[2021,12,10]],"date-time":"2021-12-10T19:40:18Z","timestamp":1639165218000},"page":"a006149","source":"Crossref","is-referenced-by-count":0,"title":["Novel<i>PAX6<\/i>variant in a family with ophthalmologic, pancreatic, and olfactory features"],"prefix":"10.1101","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4816-6216","authenticated-orcid":false,"given":"Kristen L.","family":"Buehne","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Hart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bradley","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0385-1025","authenticated-orcid":false,"given":"Jennifer L.","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2021,12,10]]},"reference":[{"key":"2024102313151227000_8.1.a006149.1","doi-asserted-by":"publisher","DOI":"10.1080\/02713683.2019.1649704"},{"key":"2024102313151227000_8.1.a006149.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103940"},{"key":"2024102313151227000_8.1.a006149.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi231"},{"key":"2024102313151227000_8.1.a006149.4","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0484-x"},{"key":"2024102313151227000_8.1.a006149.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2018.02.041"},{"key":"2024102313151227000_8.1.a006149.6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.2008.01427.x"},{"key":"2024102313151227000_8.1.a006149.7","doi-asserted-by":"publisher","DOI":"10.3390\/genes10121050"},{"key":"2024102313151227000_8.1.a006149.8","doi-asserted-by":"crossref","first-page":"2515841420954592","DOI":"10.1177\/2515841420954592","article-title":"Practical guide to genetic screening for inherited eye diseases","volume":"12","year":"2020","journal-title":"Ther Adv Ophthalmol"},{"key":"2024102313151227000_8.1.a006149.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabres.2019.107792"},{"key":"2024102313151227000_8.1.a006149.10","doi-asserted-by":"publisher","DOI":"10.1038\/90042"},{"key":"2024102313151227000_8.1.a006149.11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0054507"},{"key":"2024102313151227000_8.1.a006149.12","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90518-9"},{"key":"2024102313151227000_8.1.a006149.13","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0214684"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a006149","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T20:15:22Z","timestamp":1729714522000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a006149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,10]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,1,10]]},"published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1101\/mcs.a006149"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a006149","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"type":"print","value":"2373-2865"},{"type":"electronic","value":"2373-2873"}],"subject":[],"published":{"date-parts":[[2021,12,10]]}}}