{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T02:22:26Z","timestamp":1774664546971,"version":"3.50.1"},"reference-count":36,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,5,25]],"date-time":"2024-05-25T00:00:00Z","timestamp":1716595200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The MAF gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the MAF variants in the C-terminal DNA-binding domain associated with non-syndromic congenital cataracts and describe a patient with a novel, disease-causing de novo missense variant. Published reports of C-terminal MAF variants and their associated congenital cataracts and ophthalmic findings were reviewed. The patient we present and his biological parents had genetic testing via a targeted gene panel followed by trio-based whole exome sequencing. A 4-year-old patient with a history of bilateral nuclear and cortical cataracts was found to have a novel, likely pathogenic de novo variant in MAF, NM_005360.5:c.922A&gt;G (p.Lys308Glu). No syndromic findings or anterior segment abnormalities were identified. We report the novel missense variant, c.922A&gt;G (p.Lys308Glu), in the C-terminal DNA-binding domain of MAF classified as likely pathogenic and associated with non-syndromic bilateral congenital cataracts.<\/jats:p>","DOI":"10.3390\/genes15060686","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T10:14:07Z","timestamp":1716804847000},"page":"686","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Case of Non-Syndromic Congenital Cataracts Caused by a Novel MAF Variant in the C-Terminal DNA-Binding Domain\u2014Case Report and Literature Review"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5664-0697","authenticated-orcid":false,"given":"Sharon H.","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai Lee","family":"Yap","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerie","family":"Allegretti","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1822-1728","authenticated-orcid":false,"given":"Andy","family":"Drackley","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5233-2937","authenticated-orcid":false,"given":"Alexander","family":"Ing","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Gordon","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Skol","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"McMullen","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brenda L.","family":"Bohnsack","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"},{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6506-1096","authenticated-orcid":false,"given":"Sudhi P.","family":"Kurup","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"},{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hantamalala","family":"Ralay Ranaivo","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer L.","family":"Rossen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"},{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.exer.2016.06.011","article-title":"Mutations and mechanisms in congenital and age-related cataracts","volume":"156","author":"Shiels","year":"2017","journal-title":"Exp. Eye Res."},{"key":"ref_2","first-page":"2007","article-title":"Cat-Map: Putting cataract on the map","volume":"16","author":"Shiels","year":"2010","journal-title":"Mol. 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