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Human Molecular Genetics, Vol 7, 355-362, Copyright © 1998 by Oxford University Press

ARTICLES

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

FP Cremers, DJ van de Pol, M van Driel, AI den Hollander, FJ van Haren, NV Knoers, N Tijmes, AA Bergen, K Rohrschneider, A Blankenagel, AJ Pinckers, AF Deutman and CB Hoyng
Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. f.cremers@antrg.azn.nl

Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod dystrophy (CRD). Assuming pseudodominant (recessive) inheritance of allelic defects, linkage analysis positioned the causal gene at 1p21-p13 (lod score 4.22), a genomic segment known to harbor the ABCR gene involved in Stargardt's disease (STGD) and age- related macular degeneration (AMD). We completed the exon-intron structure of the ABCR gene and detected a severe homozygous 5[prime] splice site mutation, IVS30+1G->T, in the four RP patients. The five CRD patients in this family are compound heterozygotes for the IVS30+1G- >T mutation and a 5[prime] splice site mutation in intron 40 (IVS40+5G- >A). Both splice site mutations were found heterozygously in two unrelated STGD patients, but not in 100 control individuals. In these patients the second mutation was either a missense mutation or unknown. Since thus far no STGD patients have been reported to carry two ABCR null alleles and taking into account that the RP phenotype is more severe than the STGD phenotype, we hypothesize that the intron 30 splice site mutation represents a true null allele. Since the intron 30 mutation is found heterozygously in the CRD patients, the IVS40+5G->A mutation probably renders the exon 40 5[prime] splice site partially functional. These results show that mutations in the ABCR gene not only result in STGD and AMD, but can also cause autosomal recessive RP and CRD. Since the heterozygote frequency for ABCR mutations is estimated at 0.02, mutations in ABCR might be an important cause of autosomal recessive and sporadic forms of RP and CRD.
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[Abstract] [Full Text] [PDF]

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Home page
 IOVSHome page
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Home page
 IOVSHome page
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 IOVSHome page
Y. Q. Gao, M. Danciger, R. Longmuir, N. I. Piriev, D. Y. Zhao, J. R. Heckenlively, G. A. Fishman, R. G. Weleber, S. G. Jacobson, E. M. Stone, et al.
Screening of the Gene Encoding the {alpha}'-Subunit of Cone cGMP-PDE in Patients with Retinal Degenerations
Invest. Ophthalmol. Vis. Sci., July 1, 1999; 40(8): 1818 - 1822.
[Abstract] [Full Text] [PDF]

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 Br J OphthalmolHome page
S. Kuroiwa, H. Kojima, T. Kikuchi, and N. Yoshimura
ATP binding cassette transporter retina genotypes and age related macular degeneration: an analysis on exudative non-familial Japanese patients
Br J Ophthalmol, May 1, 1999; 83(5): 613 - 615.
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 J. Biol. Chem.Home page
H. Sun, R. S. Molday, and J. Nathans
Retinal Stimulates ATP Hydrolysis by Purified and Reconstituted ABCR, the Photoreceptor-specific ATP-binding Cassette Transporter Responsible for Stargardt Disease
J. Biol. Chem., March 19, 1999; 274(12): 8269 - 8281.
[Abstract] [Full Text] [PDF]

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 J. Biol. Chem.Home page
J. Ahn, J. T. Wong, and R. S. Molday
The Effect of Lipid Environment and Retinoids on the ATPase Activity of ABCR, the Photoreceptor ABC Transporter Responsible for Stargardt Macular Dystrophy
J. Biol. Chem., June 30, 2000; 275(27): 20399 - 20405.
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 J. Biol. Chem.Home page
H. Sun and J. Nathans
ABCR, the ATP-binding Cassette Transporter Responsible for Stargardt Macular Dystrophy, Is an Efficient Target of All-trans-retinal-mediated Photooxidative Damage in Vitro. IMPLICATIONS FOR RETINAL DISEASE
J. Biol. Chem., April 6, 2001; 276(15): 11766 - 11774.
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 J. Biol. Chem.Home page
S. Bungert, L. L. Molday, and R. S. Molday
Membrane Topology of the ATP Binding Cassette Transporter ABCR and Its Relationship to ABC1 and Related ABCA Transporters. IDENTIFICATION OF N-LINKED GLYCOSYLATION SITES
J. Biol. Chem., June 22, 2001; 276(26): 23539 - 23546.
[Abstract] [Full Text] [PDF]


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