Phenotype in a Swedish family with X-linked retinitis pigmentosa caused by a novel splice defect in the RPGR gene

Summary, in English

PURPOSE: To assess the clinical phenotype in a Swedish family with X- linked retinitis pigmentosa (XLRP) resulting from a novel splice defect in the RPGR gene. METHODS: RPGR mutation analysis was performed in one family with XLRP, and several individuals from the family were examined clinically. RESULTS: The causative mutation in the family was demonstrated to be a single base-pair change at the splice donor site in intron 7 that resulted in skipping of the complete exon 7 in the mature RPGR transcript. The aberrant mRNA is predicted to produce an RPGR protein with an in-frame deletion of 53 amino acids, corresponding to an RCC1-homology repeat. Clinical studies that included ophthalmological examination and full-field electroretinography showed that this splice mutation resulted in a comparatively less severe form of RP. CONCLUSIONS: Correlation of a causative RPGR genotype with clinical findings in hemizygotes and carrier heterozygotes is an important step toward predictive diagnosis and should assist in the development of gene-based therapies in the future.

• Author: S Bauer; R Fujita; M Buraczynska; Magnus Abrahamson; B Ehinger; W Wu; TJ Falls; S Andreasson; A Swaroop
• Department/s: Division of Clinical Chemistry and Pharmacology
• Publishing year: 1998
• Language: English
• Pages: 2470-2474
• Publication/Series: Investigative Ophthalmology & Visual Science
• Volume: 39
• Issue: 12
• Links: http://www.iovs.org/cgi/reprint/39/12/2470
• Document type: Journal article
• Publisher: Association for Research in Vision and Ophthalmology Inc.
• Topic: Ophthalmology
• Status: Published
• ISBN/ISSN/Other: ISSN: 1552-5783