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Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2470-4.

Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.

Author information

1
Department of Ophthalmology, University of Lund, Sweden.

Abstract

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.

PMID:
9804156
[Indexed for MEDLINE]

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