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Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity


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Dickinson, JL, Sale, MM, Passmore, AJ, FitzGerald, LM, Wheatley, CM, Burdon, KP, Craig, JE, Tengtrisorn, S, Carden, SM, Franzco, HM and Mackey, DA 2006 , 'Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity' , Clinical and Experimental Ophthalmology, vol. 34, no. 7 , pp. 682-688 , doi: 10.1111/j.1442-9071.2006.01314.x.

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Background: To examine the contribution of mutations within the Norrie disease (NDP) gene to the clinically similar retinal diseases Norrie disease, X-linked familial exudative vitreoretinopathy (FEVR), Coat's disease and retinopathy of prematurity (ROP).

Methods: A dataset comprising 13 Norrie-FEVR, one Coat's disease, 31 ROP patients and 90 ex-premature babies of <32 weeks' gestation underwent an ophthalmologic examination and were screened for mutations within the NDP gene by direct DNA sequencing, denaturing high-performance liquid chromatography or gel electrophoresis. Controls were only screened using denaturing high-performance liquid chromatography and gel electrophoresis. Confirmation of mutations identified was obtained by DNA sequencing.

Results: Evidence for two novel mutations in the NDP gene was presented: Leu103Val in one FEVR patient and His43Arg in monozygotic twin Norrie disease patients. Furthermore, a previously described 14-bp deletion located in the 5' unstranslated region of the NDP gene was detected in three cases of regressed ROP. A second heterozygotic 14-bp deletion was detected in an unaffected ex-premature girl. Only two of the 13 Norrie-FEVR index cases had the full features of Norrie disease with deafness and mental retardation.

Conclusion: Two novel mutations within the coding region of the NDP gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR. A deletion within the non-coding region was associated with only mild-regressed ROP, despite the presence of low birthweight, prematurity and exposure to oxygen. In full-term 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-term outcome.

Item Type: Article
Authors/Creators:Dickinson, JL and Sale, MM and Passmore, AJ and FitzGerald, LM and Wheatley, CM and Burdon, KP and Craig, JE and Tengtrisorn, S and Carden, SM and Franzco, HM and Mackey, DA
Keywords: Norrie disease, retinopathy of prematurity, Xlinked familial exudative vitreoretinopathy
Journal or Publication Title: Clinical and Experimental Ophthalmology
ISSN: 1442-6404
DOI / ID Number: 10.1111/j.1442-9071.2006.01314.x
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