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The purpose of this study was to identify the genetic defects and to investigate the relationships between disease-causing genes and lens morphology in congenital cataracts. Patients were given a physical examination and their blood samples were collected for DNA extraction. Mutation analysis was performed by direct sequencing of the following candidate genes: <jats:italic>CRYGC, CRYGD<\/jats:italic>, <jats:italic>CRYGS, GJA8, GJA3<\/jats:italic> and <jats:italic>CRYAA<\/jats:italic>. Mutational analysis of <jats:italic>CRYGD<\/jats:italic> identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. The p.E135X mutation is a <jats:italic>de novo<\/jats:italic> mutation. Haplotype analysis showed patients inherited the same <jats:italic>CRYGD<\/jats:italic> allele originated from father. The p.E135X mutation seen in two siblings suggests a mechanism of gonadal mosaicism in the father.<\/jats:p>","DOI":"10.1038\/srep18912","type":"journal-article","created":{"date-parts":[[2016,1,6]],"date-time":"2016-01-06T10:12:52Z","timestamp":1452075172000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Novel mutations in CRYGD are associated with congenital cataracts in Chinese families"],"prefix":"10.1038","volume":"6","author":[{"given":"Guoxing","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhimin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wulin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiqiang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jialiang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,1,6]]},"reference":[{"key":"BFsrep18912_CR1","first-page":"1444","volume":"42","author":"JS Rahi","year":"2001","unstructured":"Rahi, J. 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