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We collected detailed disease histories from, and performed comprehensive ophthalmic and systemic examinations in 269 patients with CCs; we then performed whole\u2010exome sequencing. Pathogenicity assessments were evaluated using multiple predictive tools. The clinical validities of the reported gene\u2013disease relationships for <jats:italic>MAF<\/jats:italic> genes (<jats:italic>MAF<\/jats:italic>\u2010CCs and <jats:italic>MAF<\/jats:italic>\u2010AYGRPS) were assessed using the ClinGen gene curation framework. We identified two novel (c.173C&gt;A, p.Thr58Asn and c.947T&gt;C, p. Leu316Pro) variants and one known (c.173C&gt;T, p.Thr58Ile) <jats:italic>MAF<\/jats:italic> missense variant in three patients. We described novel phenotypes including cleft palate, macular hypoplasia, and retinal neovascularization in the peripheral avascular area and analyzed the genotype\u2013phenotype correlations. We demonstrated associations of variants in the MAF C\u2010terminal DNA\u2010binding domain with CCs and associations of variants in the N\u2010terminal transactivation domain of MAF with AYGRPS. We thus expand the genotypic and phenotypic spectrum of the <jats:italic>MAF<\/jats:italic> gene. The ClinGen gene curation framework results suggested that variants in different domains of MAF are associated with different diseases.<\/jats:p>","DOI":"10.1002\/ajmg.a.62947","type":"journal-article","created":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T08:45:56Z","timestamp":1660207556000},"page":"2888-2898","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Broadening the genotypic and phenotypic spectrum of <scp><i>MAF<\/i><\/scp> in three Chinese Han congenital cataracts families"],"prefix":"10.1002","volume":"188","author":[{"given":"Qiwei","family":"Wang","sequence":"first","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingfeng","family":"Qin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haowen","family":"Tan","sequence":"additional","affiliation":[{"name":"Aegicare Biotech  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Ding","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoshan","family":"Lin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Li","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuolin","family":"Lin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Limei","family":"Sun","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haotian","family":"Lin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3600-8368","authenticated-orcid":false,"given":"Weirong","family":"Chen","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre Sun Yat\u2010sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,11]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"GeneReviews([R])","author":"Amudhavalli S. 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