{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T04:12:22Z","timestamp":1772683942843,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,6,28]],"date-time":"2019-06-28T00:00:00Z","timestamp":1561680000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1116360"],"award-info":[{"award-number":["1116360"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1154824"],"award-info":[{"award-number":["1154824"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>CYP1B1<\/jats:italic> variants and deletions are the most common cause of primary congenital glaucoma (PCG).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We investigated an individual with PCG from the Australian and New Zealand Registry of Advanced Glaucoma. We performed sequencing of the <jats:italic>CYP1B1<\/jats:italic> gene, followed by Multiplex Ligation\u2010dependent Probe Amplification and SNP array.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a homozygous deletion of the <jats:italic>CYP1B1<\/jats:italic> gene by Multiplex Ligation\u2010dependent Probe Amplification and confirmed that the father was heterozygous for a <jats:italic>CYP1B1<\/jats:italic> deletion but the mother had normal gene copy number. SNP array identified paternal uniparental isodisomy of the entire chromosome 2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study is the first report of a homozygous <jats:italic>CYP1B1<\/jats:italic> whole gene deletion due to paternal uniparental isodisomy of chromosome 2 as a cause of PCG. These results illustrate the importance of genetic testing in providing appropriate genetic counseling regarding the risks of recurrence.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.774","type":"journal-article","created":{"date-parts":[[2019,6,28]],"date-time":"2019-06-28T13:57:21Z","timestamp":1561730241000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and <i>CYP1B1<\/i> deletion"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2015-6577","authenticated-orcid":false,"given":"Emmanuelle","family":"Souzeau","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Dubowsky","sequence":"additional","affiliation":[{"name":"SA Pathology Flinders Medical Centre Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan B.","family":"Ruddle","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital University of Melbourne Melbourne Victoria Australia"},{"name":"Ophthalmology, Department of Surgery University of Melbourne Melbourne Victoria Australia"},{"name":"Department of Ophthalmology Royal Children\u2019s Hospital Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamie E.","family":"Craig","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University, Flinders Medical Centre Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,6,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33462"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.3.367"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.9.6786"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2012.743571"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_7_7_1","first-page":"76","article-title":"Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal\u2010recessive inheritance and complete penetrance","volume":"16","author":"Gencik A.","year":"1989","journal-title":"Developments in Ophthalmology"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2011.01.044"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32973"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1080095"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01242.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1442-9071.2004.00750.x"},{"key":"e_1_2_7_13_1","first-page":"1707","article-title":"Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non\u2010consanguineous congenital forms in a Spanish population","volume":"19","author":"Milla E.","year":"2013","journal-title":"Molecular Vision"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2012.03863.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13164"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.4.641"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-9071.2011.02742.x"},{"key":"e_1_2_7_18_1","first-page":"160","article-title":"CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma","volume":"21","author":"Souzeau E.","year":"2015","journal-title":"Molecular Vision"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2015.0980"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/icu.0000000000000516"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/338455"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.774","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.774","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.774","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.774","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T07:02:52Z","timestamp":1692601372000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.774"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,28]]},"references-count":20,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1002\/mgg3.774"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.774","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,28]]},"assertion":[{"value":"2019-02-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e774"}}