Library Open Repository

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

Downloads

Downloads per month over past year

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 (2006) Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. Clinical and Experimental Ophthalmology, 34 (7). pp. 682-688. ISSN 1442-6404

[img] PDF
Dickinson_Clin_Exp_Ophth.pdf | Request a copy
Full text restricted

Abstract

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
Keywords: Norrie disease, retinopathy of prematurity, Xlinked familial exudative vitreoretinopathy
Journal or Publication Title: Clinical and Experimental Ophthalmology
Page Range: pp. 682-688
ISSN: 1442-6404
Identification Number - DOI: 10.1111/j.1442-9071.2006.01314.x
Additional Information: The definitive published version is available online at: http://interscience.wiley.com
Date Deposited: 28 Aug 2008 05:58
Last Modified: 18 Nov 2014 03:48
URI: http://eprints.utas.edu.au/id/eprint/7328
Item Statistics: View statistics for this item

Repository Staff Only (login required)

Item Control Page Item Control Page