Abstract
Stargardt disease, an autosomal recessive macular dystrophy of childhood, leading to severe visual impairment, is caused by mutations in the retina-specific ATP binding transporter gene (ABCR). Previously, the ABCR cDNA and part of the exon-intron structure were described. We have determined the complete ABCR exon-intron structure by exon-exon PCR. The ABCR gene encompasses 50 exons, 29 of which are first described here with their corresponding intron-exon boundaries. The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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ATP-Binding Cassette Transporters / genetics*
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Child
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DNA, Complementary
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Exons*
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Humans
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Introns*
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Macular Degeneration / genetics*
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Molecular Sequence Data
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Mutation*
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Polymerase Chain Reaction
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RNA Splicing
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Retina / metabolism*
Substances
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ABCA4 protein, human
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ATP-Binding Cassette Transporters
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DNA, Complementary
Associated data
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GENBANK/Y15635
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GENBANK/Y15636
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GENBANK/Y15637
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GENBANK/Y15638
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GENBANK/Y15639
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GENBANK/Y15641
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GENBANK/Y15646
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GENBANK/Y15647
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GENBANK/Y15649
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GENBANK/Y15650
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GENBANK/Y15657
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GENBANK/Y15658
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GENBANK/Y15659
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GENBANK/Y15660
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GENBANK/Y15661
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GENBANK/Y15662
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GENBANK/Y15663
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GENBANK/Y15664