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© 1992 Oxford University Press

RESEARCH-ARTICLE

Mutations in the candidate gene for Norrie disease

Wolfgang Berger*, Dorien van de Pol, Mette Warburg1, Andreas Gal2, Liesbeth Bleeker-Wagemakers3, Harendra de Silva4, Alfons Meindl5, Thomas Meitinger5, Frans Cremers and Hans-Hilger Ropers

Department of Human Genetics, University Hospital Nijmegen PO Box 9101, 6500 HB Nijmegen, The Netherlands 1Eye Clinic for the Handicapped, Gentofte Hospital Copenhagen, Denmark 2lnstitute for Human Genetics, Medical University LÜbeck, Germany 3The Netherlands Ophthalmic Research Institute, Department of Ophthalmogenetics Amsterdam, The Netherlands 4Department of Pediatrics, Faculty of Medicine, University of Ruhuna Galle, Sri Lanka 5Abteilung für Päadiatrische Genetik, Kinderpoliklinik, Universität München Germany

*To whom correspondence should be addressed

Received August 25, 1992; Revised September 2, 1992; Accepted September 2, 1992

Recently, we and others have isolated a candidate gene for X linked Norrie disease (ND) which was found to be deleted or disrupted in several patients. As a prerequisite for the identification of point mutations in the ND gene we have established the exon-intron structure of this gene. In 17 unrelated patients and 15 controls, PCR products derived from the promoter region, exons 1 and 2 as well as the coding part of exon 3 were analysed with the single strand conformation polymorphism (SSCP) technique. In 12 patients altered PCR fragments were detected which were studied in detail by direct sequencing. Eleven different mutations were found, and all but one are likely to give rise to significant structural changes in the predicted protein. These findings, and the absence of functionally relevant base changes in healthy controls, emphasize the causal role of this candidate gene in Norrie disease and pave the way for reliable diagnosis and carrier detection.


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