Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.
OBJECTIVE
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.
Bauer
S
S
Department of Ophthalmology, University of Lund, Sweden.
Fujita
R
R
Buraczynska
M
M
Abrahamson
M
M
Ehinger
B
B
Wu
W
W
Falls
T J
TJ
Andréasson
S
S
Swaroop
A
A
D002352:Carrier Proteins / Q000235:genetics*; D017931:DNA Primers / Q000737:chemistry; D004596:Electroretinography; D005136:Eye Proteins; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D058609:Visual Field Tests; D014794:Visual Fields; D014960:X Chromosome / Q000235:genetics*
D002352:Carrier Proteins; D017931:DNA Primers; D005136:Eye Proteins; C099929:RPGR protein, human