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

Bauer, S; Fujita, R; Buraczynska, M; Abrahamson, Magnus LU ; Ehinger, B; Wu, W; Falls, TJ; Andreasson, S and Swaroop, A (1998) In Investigative Ophthalmology & Visual Science 39(12). p.2470-2474
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Investigative Ophthalmology & Visual Science
volume
39
issue
12
pages
2470 - 2474
publisher
ASSOC RESEARCH VISION OPHTHALMOLOGY INC
external identifiers
  • scopus:0031789543
ISSN
1552-5783
language
English
LU publication?
yes
id
64957835-771c-4779-9397-faee9d4bf4c5 (old id 1113894)
alternative location
http://www.iovs.org/cgi/reprint/39/12/2470
date added to LUP
2008-07-16 13:43:55
date last changed
2017-01-01 07:23:39
@article{64957835-771c-4779-9397-faee9d4bf4c5,
  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.},
  author       = {Bauer, S and Fujita, R and Buraczynska, M and Abrahamson, Magnus and Ehinger, B and Wu, W and Falls, TJ and Andreasson, S and Swaroop, A},
  issn         = {1552-5783},
  language     = {eng},
  number       = {12},
  pages        = {2470--2474},
  publisher    = {ASSOC RESEARCH VISION OPHTHALMOLOGY INC},
  series       = {Investigative Ophthalmology & Visual Science},
  title        = {Phenotype in a Swedish family with X-linked retinitis pigmentosa caused by a novel splice defect in the RPGR gene},
  volume       = {39},
  year         = {1998},
}