[Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)].
BACKGROUND
Demonstrating the types of ABCA4 mutations in the STGD1 gene in a family manifesting both Stargardt's disease and retinitis pigmentosa (RP19).


METHODS
Clinical ophthalmological examination included funduscopy, ERG, Arden Colour contrast test, fluorescein angiography in one patient, perimetry and SLO perimetry. The 50 exons of the ABCA4 gene were screened using a combination of denaturating gradient gel electrophoresis (DGGE), high performance electrophoresis (dHPLC) and SSCP analysis.


RESULTS
Patient I/1 showed typical signs of Stargardt's disease, while her son, II-1 demonstrated functional signs and morphological features of retinitis pigmentosa. Mutational analysis of the ABCA4 gene revealed a missense mutation in exon 42 (G5882G > A) and a frameshift mutation in exon 43 (5917delG) of patient I-1. Patient II/1 demonstrated a homozygous 5917delG mutation in exon 43, resulting in a functional null-mutation.


CONCLUSIONS
The combination of ABCA4 alleles with various functional consequences to protein activity can lead to different clinical phenotypes in one and the same family, resulting either in typical Stargardt's disease or in autosomal recessive retinitis pigmentosa (RP19).
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000483:Alleles; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D004596:Electroretinography; D005091:Exons; D005260:Female; D005451:Fluorescein Angiography; D016368:Frameshift Mutation / Q000235:genetics; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D058609:Visual Field Tests
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters
Mutationen im ABCA4-Gen in einer Familie mit Stargardtscher Erkrankung und Retinitis pigmentosa (STGD1/RP19).