{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T10:01:33Z","timestamp":1780308093548,"version":"3.54.0"},"reference-count":8,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T00:00:00Z","timestamp":1773187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T00:00:00Z","timestamp":1773187200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>GCNT2<\/jats:italic>\n                    \u2010related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult\n                    <jats:italic>i<\/jats:italic>\n                    blood phenotype) and is caused by biallelic variants in\n                    <jats:italic>GCNT2<\/jats:italic>\n                    , which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C). While the transcript that includes exon 1C is thought to be key for the adult\n                    <jats:italic>i<\/jats:italic>\n                    blood phenotype, it is not clear which transcript(s) are clinically relevant for the CC disease phenotype. We report a proband with CC and a truncating variant in exon 1B (NM_001491.3: c.760dup p.H254Pfs*2) found in\n                    <jats:italic>trans<\/jats:italic>\n                    with a 75 kilobase (kb) copy\u2010number deletion encompassing exon 1B and 1C. To our knowledge, c.760dup is the first reported disease\u2010associated variant limited to exon 1B of\n                    <jats:italic>GCNT2<\/jats:italic>\n                    . This report strongly suggests that NM_001491.3, which includes exon 1B, is a clinically relevant transcript for\n                    <jats:italic>GCNT2<\/jats:italic>\n                    \u2010related cataracts and adds to the variant spectrum for this understudied gene\u2010disease relationship. This finding has implications for genotype\u2013phenotype correlations of\n                    <jats:italic>GCNT2<\/jats:italic>\n                    related CC and variant classification, particularly for truncations in exon 1B, which should likely receive strong pro\u2010pathogenic weight based on this being a clinically relevant exon.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70123","type":"journal-article","created":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T03:50:55Z","timestamp":1773287455000},"page":"1716-1718","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report With Biallelic Variants in\n                    <scp>\n                      <i>GCNT2<\/i>\n                    <\/scp>\n                    Implicates Exon\n                    <scp>1B<\/scp>\n                    in Congenital Cataracts"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-4777-4190","authenticated-orcid":false,"given":"Audrey","family":"O'Neill","sequence":"first","affiliation":[{"name":"Ambry Genetics  Aliso Viejo California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy","family":"Bayer","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Medicine Tufts Medical Center  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"McQuillen","sequence":"additional","affiliation":[{"name":"Ambry Genetics  Aliso Viejo California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica D.","family":"Smith","sequence":"additional","affiliation":[{"name":"Ambry Genetics  Aliso Viejo California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meghan","family":"Towne","sequence":"additional","affiliation":[{"name":"Ambry Genetics  Aliso Viejo California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dallas","family":"Reed","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Medicine Tufts Medical Center  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2023.11.011"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2025.101373"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010016\u20100316\u20100"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0167562"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2006.01006.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2196"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2021.0385"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-09-2693"}],"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.70123","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70123","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T09:07:20Z","timestamp":1780304840000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,11]]},"references-count":8,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/ajmg.a.70123"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70123","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,11]]},"assertion":[{"value":"2025-12-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}