{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:27:56Z","timestamp":1790015276155,"version":"4.0.1"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2006,9,13]],"date-time":"2006-09-13T00:00:00Z","timestamp":1158105600000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Exper Ophthalmology"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:title>A<jats:sc>bstract<\/jats:sc><\/jats:title><jats:p><jats:bold>Background:\u2002<\/jats:bold> To examine the contribution of mutations within the Norrie disease (<jats:italic>NDP<\/jats:italic>) gene to the clinically similar retinal diseases Norrie disease, X\u2010linked familial exudative vitreoretinopathy (FEVR), Coat\u2019s disease and retinopathy of prematurity (ROP).<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> A dataset comprising 13 Norrie\u2010FEVR, one Coat\u2019s disease, 31 ROP patients and 90 ex\u2010premature babies of &lt;32\u2003weeks\u2019 gestation underwent an ophthalmologic examination and were screened for mutations within the <jats:italic>NDP<\/jats:italic> gene by direct DNA sequencing, denaturing high\u2010performance liquid chromatography or gel electrophoresis. Controls were only screened using denaturing high\u2010performance liquid chromatography and gel electrophoresis. Confirmation of mutations identified was obtained by DNA sequencing.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> Evidence for two novel mutations in the <jats:italic>NDP<\/jats:italic> gene was presented: Leu103Val in one FEVR patient and His43Arg in monozygotic twin Norrie disease patients. Furthermore, a previously described 14\u2010bp deletion located in the 5\u2032 unstranslated region of the <jats:italic>NDP<\/jats:italic> gene was detected in three cases of regressed ROP. A second heterozygotic 14\u2010bp deletion was detected in an unaffected ex\u2010premature girl. Only two of the 13 Norrie\u2010FEVR index cases had the full features of Norrie disease with deafness and mental retardation.<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold> Two novel mutations within the coding region of the <jats:italic>NDP<\/jats:italic> gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR. A deletion within the non\u2010coding region was associated with only mild\u2010regressed ROP, despite the presence of low birthweight, prematurity and exposure to oxygen. In full\u2010term children with retinal detachment only 15% appear to have the full features of Norrie disease and this is important for counselling parents on the possible long\u2010term outcome.<\/jats:p>","DOI":"10.1111\/j.1442-9071.2006.01314.x","type":"journal-article","created":{"date-parts":[[2006,9,13]],"date-time":"2006-09-13T09:34:28Z","timestamp":1158140068000},"page":"682-688","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":68,"title":["Mutations in the <i>NDP<\/i> gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity"],"prefix":"10.1111","volume":"34","author":[{"given":"Joanne L","family":"Dickinson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8le 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