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Disease-causing variants in transcription factors and their developmental target genes are associated with congenital cataracts and other eye anomalies.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Using whole exome sequencing, we identified disease-causing variants in two large British families and one isolated case with autosomal dominant congenital cataract. Bioinformatics analysis confirmed these disease-causing mutations as rare or novel variants, with a moderate to damaging pathogenicity score, with testing for segregation within the families using direct Sanger sequencing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Family A had a missense variant (c.184\u2009G&gt;A; p.V62M) in <jats:italic>PAX6<\/jats:italic> and affected individuals presented with nuclear cataract. Family B had a frameshift variant (c.470\u2013477dup; p.A160R*) in <jats:italic>PITX3<\/jats:italic> that was also associated with nuclear cataract. A recurrent missense variant in <jats:italic>HSF4<\/jats:italic> (c.341\u2009T&gt;C; p.L114P) was associated with congenital cataract in a single isolated case.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>We have therefore identified novel variants in <jats:italic>PAX6<\/jats:italic> and <jats:italic>PITX3<\/jats:italic> that cause autosomal dominant congenital cataract.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1038\/s41433-021-01711-x","type":"journal-article","created":{"date-parts":[[2021,8,3]],"date-time":"2021-08-03T15:27:34Z","timestamp":1628004454000},"page":"1694-1701","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts"],"prefix":"10.1038","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6008-8970","authenticated-orcid":false,"given":"Vanita","family":"Berry","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Ionides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1782-4711","authenticated-orcid":false,"given":"Nikolas","family":"Pontikos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony T.","family":"Moore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy A.","family":"Quinlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1552-7046","authenticated-orcid":false,"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,8,3]]},"reference":[{"key":"1711_CR1","doi-asserted-by":"publisher","first-page":"1170","DOI":"10.1038\/eye.2016.124","volume":"30","author":"EI Traboulsi","year":"2016","unstructured":"Traboulsi EI, Vanderveen D, Morrison D, Drews-Botsch CD, Lambert SR. 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