Phenotype in a Swedish family with X-linked retinitis pigmentosa caused by a novel splice defect in the RPGR gene
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1113894
- author
- Bauer, S ; Fujita, R ; Buraczynska, M ; Abrahamson, Magnus LU ; Ehinger, B ; Wu, W ; Falls, TJ ; Andreasson, S and Swaroop, A
- organization
- publishing date
- 1998
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Investigative Ophthalmology & Visual Science
- volume
- 39
- issue
- 12
- pages
- 2470 - 2474
- publisher
- Association for Research in Vision and 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
- 2016-04-01 17:04:50
- date last changed
- 2022-01-29 00:12:00
@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 = {{Association for Research in Vision and 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}}, url = {{http://www.iovs.org/cgi/reprint/39/12/2470}}, volume = {{39}}, year = {{1998}}, }