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


Dickinson, JL and Sale, MM and Passmore, A and Fitzgerald, LM and Wheatley, CM and Burdon, KP and Craig, JE and Tengtrisorn, S and Carden, SM and Franzco, HM and Mackey, DA, 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 (2006) [Refereed Article]

DOI: doi:10.1111/j.1442-9071.2006.01314.x


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. © 2006 Royal Australian and New Zealand College of Ophthalmologists.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Dickinson, JL (Professor Joanne Dickinson)
UTAS Author:Sale, MM (Dr Michele Sale)
UTAS Author:Passmore, A (Dr Abraham Passmore)
UTAS Author:Fitzgerald, LM (Dr Liesel Fitzgerald)
UTAS Author:Wheatley, CM (Ms Catherine Wheatley)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:41601
Year Published:2006
Web of Science® Times Cited:61
Deposited By:Medicine
Deposited On:2006-08-01
Last Modified:2009-08-25

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