title: Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
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.
authors.affiliation: INSERM U393, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Gerber
authors.forename: J M
authors.initials: JM
authors.lastname: Rozet
authors.forename: T J
authors.initials: TJ
authors.lastname: van de Pol
authors.forename: C B
authors.initials: CB
authors.lastname: Hoyng
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: A
authors.initials: A
authors.lastname: Blankenagel
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002648:Child; D018076:DNA, Complementary; D005091:Exons; D006801:Humans; D007438:Introns; D008268:Macular Degeneration / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D012160:Retina / Q000378:metabolism*
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D018076:DNA, Complementary