Phenotype variation within a choroideremia family lacking the entire CHM gene
Författare
Summary, in English
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.
Publiceringsår
1995
Språk
Engelska
Sidor
143-150
Publikation/Tidskrift/Serie
Ophthalmic Genetics
Volym
16
Issue
4
Dokumenttyp
Artikel i tidskrift
Förlag
Taylor & Francis
Ämne
- Ophthalmology
Nyckelord
- CHM gene
- Choroideremia
- full-field ERG
- phenotype
Status
Published
ISBN/ISSN/Övrigt
- ISSN: 1744-5094