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We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I\/i phenotype and congenital cataract is due to the differential expression of <jats:italic>GCNT2<\/jats:italic> isoforms.<\/jats:p>","DOI":"10.1038\/hgv.2017.4","type":"journal-article","created":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T03:28:23Z","timestamp":1487215703000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype"],"prefix":"10.1038","volume":"4","author":[{"given":"Sek-Shir","family":"Cheong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Hull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ravinder","family":"Chana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Thornton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Plagnol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony T","family":"Moore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alison J","family":"Hardcastle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,2,16]]},"reference":[{"key":"BFhgv20174_CR1","doi-asserted-by":"publisher","first-page":"1431","DOI":"10.1136\/bjophthalmol-2013-303578","volume":"97","author":"D Mitry","year":"2013","unstructured":"Mitry D, Bunce C, Wormald R, Leamon S, Simkiss P, Cumberland P et al. 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