Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135–Trp): Disease phenotype in a Swedish family
Ponjavic, Vesna LU ; Abrahamson, Magnus LU ; Andréasson, Sten LU ; Ehinger, Berndt LU
and Fex, G
(1997)
In Acta Ophthalmologica Scandinavica
75(2).
p.218-223
- Abstract
- We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant retinitis pigmentosa. With full-field electroretinography we could document a severe form of retinitis pigmentosa in patients belonging to the family, similar to the phenotype associated with the previously reported mutation (arginine-135-leucine). Our results indicate that different point mutations in the same region of the rhodopsin gene, resulting in amino acids with similar properties (both hydrophobic), may cause a similar clinical phenotype.... (More)
- We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant retinitis pigmentosa. With full-field electroretinography we could document a severe form of retinitis pigmentosa in patients belonging to the family, similar to the phenotype associated with the previously reported mutation (arginine-135-leucine). Our results indicate that different point mutations in the same region of the rhodopsin gene, resulting in amino acids with similar properties (both hydrophobic), may cause a similar clinical phenotype. Further, point mutations in this specific region seem to cause an agressive form of retinitis pigmentosa. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1112408
- author
- Ponjavic, Vesna
LU
; Abrahamson, Magnus
LU
; Andréasson, Sten
LU
; Ehinger, Berndt
LU
and Fex, G
- organization
- publishing date
- 1997
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Acta Ophthalmologica Scandinavica
- volume
- 75
- issue
- 2
- pages
- 218 - 223
- publisher
- Wiley
- external identifiers
-
- scopus:0030950010
- ISSN
- 1395-3907
- language
- English
- LU publication?
- yes
- id
- cd95bd22-090c-4c97-9a5e-988b530058ce (old id 1112408)
- date added to LUP
- 2016-04-01 17:08:06
- date last changed
- 2022-01-29 00:33:53
@article{cd95bd22-090c-4c97-9a5e-988b530058ce,
abstract = {{We here present the clinical phenotype in 6 patients from a family with autosomal dominant retinitis pigmentosa found to carry a point mutation in the rhodopsin gene (arginine-135-tryptophan). The mutation is the second found by mutation screening of DNA from 20 Swedish families with dominant retinitis pigmentosa. With full-field electroretinography we could document a severe form of retinitis pigmentosa in patients belonging to the family, similar to the phenotype associated with the previously reported mutation (arginine-135-leucine). Our results indicate that different point mutations in the same region of the rhodopsin gene, resulting in amino acids with similar properties (both hydrophobic), may cause a similar clinical phenotype. Further, point mutations in this specific region seem to cause an agressive form of retinitis pigmentosa.}},
author = {{Ponjavic, Vesna and Abrahamson, Magnus and Andréasson, Sten and Ehinger, Berndt and Fex, G}},
issn = {{1395-3907}},
language = {{eng}},
number = {{2}},
pages = {{218--223}},
publisher = {{Wiley}},
series = {{Acta Ophthalmologica Scandinavica}},
title = {{Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135–Trp): Disease phenotype in a Swedish family}},
volume = {{75}},
year = {{1997}},
}