Phenotype variation within a choroideremia family lacking the entire CHM gene
In: Ophthalmic Genetics; 16(4), pp 143-150 (1995) ; ISSN: 1744-5094, 1995
academicJournal
Zugriff:
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.
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Phenotype variation within a choroideremia family lacking the entire CHM gene
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Autor/in / Beteiligte Person: | Ponjavic, Vesna ; Abrahamson, Magnus ; Andréasson, Sten ; van Bokhoven, Hans ; Cremers, Frans P M ; Ehinger, Berndt ; Fex, Göran |
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Zeitschrift: | Ophthalmic Genetics; 16(4), pp 143-150 (1995) ; ISSN: 1744-5094, 1995 |
Veröffentlichung: | Taylor & Francis, 1995 |
Medientyp: | academicJournal |
ISBN: | 978-0-02-878673-5 (print) ; 0-02-878673-4 (print) |
DOI: | 10.3109/13816819509057855 |
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