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Phenotype variation within a choroideremia family lacking the entire CHM gene

Ponjavic, Vesna LU ; Abrahamson, Magnus LU ; Andréasson, Sten LU ; van Bokhoven, Hans; Cremers, Frans P M; Ehinger, Berndt LU and Fex, Göran (1995) In Ophthalmic Genetics 16(4). p.143-150
Abstract
A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electro-retinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerable variability regarding the phenotype, including the electroretinogram tracings. Two of the affected males demonstrated a severe form of choroideremia with low or nondetectable ERG recordings, while the other two affected males showed a less severe phenotype with only a slight reduction of the ERG amplitudes. The variation of the clinical phenotype among family members carrying the same mutation indicates that the severity... (More)
A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electro-retinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerable variability regarding the phenotype, including the electroretinogram tracings. Two of the affected males demonstrated a severe form of choroideremia with low or nondetectable ERG recordings, while the other two affected males showed a less severe phenotype with only a slight reduction of the ERG amplitudes. The variation of the clinical phenotype among family members carrying the same mutation indicates that the severity of choroideremia is not solely a function of the CHM gene. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
CHM gene, Choroideremia, full-field ERG, phenotype
in
Ophthalmic Genetics
volume
16
issue
4
pages
143 - 150
publisher
Taylor & Francis
external identifiers
  • scopus:0028786734
ISSN
1744-5094
DOI
10.3109/13816819509057855
language
English
LU publication?
yes
id
4125486e-58bb-4e68-a99d-07457dae1cfa (old id 1109728)
date added to LUP
2008-07-29 14:39:28
date last changed
2017-03-05 04:01:54
@article{4125486e-58bb-4e68-a99d-07457dae1cfa,
  abstract     = {A Swedish family with choroideremia and a deletion of the CHM gene has been studied with ophthalmological examination, full-field electro-retinography, and DNA analysis in order to characterize the phenotype of the disease. Although all four patients studied had a complete deletion of the gene, they showed a considerable variability regarding the phenotype, including the electroretinogram tracings. Two of the affected males demonstrated a severe form of choroideremia with low or nondetectable ERG recordings, while the other two affected males showed a less severe phenotype with only a slight reduction of the ERG amplitudes. The variation of the clinical phenotype among family members carrying the same mutation indicates that the severity of choroideremia is not solely a function of the CHM gene.},
  author       = {Ponjavic, Vesna and Abrahamson, Magnus and Andréasson, Sten and van Bokhoven, Hans and Cremers, Frans P M and Ehinger, Berndt and Fex, Göran},
  issn         = {1744-5094},
  keyword      = {CHM gene,Choroideremia,full-field ERG,phenotype},
  language     = {eng},
  number       = {4},
  pages        = {143--150},
  publisher    = {Taylor & Francis},
  series       = {Ophthalmic Genetics},
  title        = {Phenotype variation within a choroideremia family lacking the entire CHM gene},
  url          = {http://dx.doi.org/10.3109/13816819509057855},
  volume       = {16},
  year         = {1995},
}