The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
Abstract
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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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
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Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy
Gu, S.-M., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-194 · Cited by 663
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Mutations in RPE65 cause Leber's congenital amaurosis
Marlhens, F., Bareil, C., Griffoin, J.-M., Zrenner, E., Amalric, P., Eliaou, C., Liu, S.-Y., Harris, E., Redmond, T. M., Arnaud, B., et al. (1997) · Nature Genetics · doi:10.1038/ng1097-139 · Cited by 606
Positional cloning of the gene associated with X-linked juvenile retinoschisis
Sauer, C. G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B., & Weber, B. H. F. (1997) · Nature Genetics · doi:10.1038/ng1097-164 · Cited by 497
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Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
Sun, H., & Nathans, J. (1997) · Nature Genetics · doi:10.1038/ng0997-15 · Cited by 251
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Brooks-Wilson, A., Marcil, M., Clee, S. M., Zhang, L.-H., Roomp, K., van Dam, M., Yu, L., Brewer, C., Collins, J. A., Molhuizen, H. O. F., et al. (1999) · Nature Genetics · doi:10.1038/11905 · Cited by 1,687
Non-syndromic retinitis pigmentosa
Verbakel, S. K., van Huet, R. A. C., Boon, C. J. F., den Hollander, A. I., Collin, R. W. J., Klaver, C. C. W., Hoyng, C. B., Roepman, R., & Klevering, B. J. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.03.005 · Cited by 973
Weng, J., Mata, N. L., Azarian, S. M., Tzekov, R. T., Birch, D. G., & Travis, G. H. (1999) · Cell · doi:10.1016/s0092-8674(00)80602-9 · Cited by 881
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
den Hollander, A. I., Koenekoop, R. K., Yzer, S., Lopez, I., Arends, M. L., Voesenek, K. E. J., Zonneveld, M. N., Strom, T. M., Meitinger, T., Brunner, H. G., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/507318 · Cited by 668
Self-citationDiseases Caused by Defects in the Visual Cycle: Retinoids as Potential Therapeutic Agents
Travis, G. H., Golczak, M., Moise, A. R., & Palczewski, K. (2007) · Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev.pharmtox.47.120505.105225 · Cited by 419
Metadata
- Authors
- Cremers, F.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1998-03-01
- Volume
- 7
- Issue
- 3
- Pages
- 355-362
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2125422830
- Cited by
- 548
- References
- 8
- FWCI
- 10.92
- Type
- journal article
- Language
- en
- Open access
- closed
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- Cremers, F. (1998). Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Human Molecular Genetics. https://doi.org/10.1093/hmg/7.3.355
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