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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy

Nature Genetics volume 15, pages 236–246 (1997)Cite this article

A Correction to this article was published on 01 September 1997

Abstract

Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. A gene encoding an ATP-binding cassette (ABC) transporter was mapped to the 2-cM (centiMorgan) interval at 1p13-p21 previously shown by linkage analysis to harbour the STGD gene. This gene, ABCR, is expressed exclusively and at high levels in the retina, in rod but not cone photoreceptors, as detected by in situ hybridization. Mutational analysis of ABCR in STGD families revealed a total of 19 different mutations including homozygous mutations in two families with consanguineous parentage. These data indicate that ABCR is the causal gene of STGD/FFM.

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Authors and Affiliations

  1. Laboratory of Genomic Diversity, SAIC-Frederick, National Cancer Institute-Frederick Cancer Research and Development Center, Frederick, Maryland, 21702-1201, USA

    Amy Hutchinson & Michael Dean

  2. Intramural Research Support Program, SAIC-Frederick, National Cancer Institute-Frederick Cancer Research and Development Center, Frederick, Maryland, 21702-1201, USA

    Rando Allikmets, Abirami Chidambaram & Bernard Gerrard

  3. Department of Human Genetics, University of Utah, Salt Lake City, Utah, 84112, USA

    Nanda Singh, Lisa Baird, Dora Stauffer, Andy Peiffer & Mark Leppert

  4. Departments of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    Hui Sun, Amir Rattner, Philip Smallwood & Jeremy Nathans

  5. Departments of Neuroscience, and Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    Jeremy Nathans

  6. Departments of Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21205, USA

    Amir Rattner, Philip Smallwood & Jeremy Nathans

  7. Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA

    Noah F. Shroyer, Yixin Li, Kent L. Anderson, Richard Alan Lewis & James R. Lupski

  8. Departments of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA

    Richard Alan Lewis & James R. Lupski

  9. Departments of Ophthalmology, and Medicine, Baylor College of Medicine, Houston, Texas, 77030, USA

    Richard Alan Lewis

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  1. Rando Allikmets
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Allikmets, R., Singh, N., Sun, H. et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Starqardt macular dystrophy. Nat Genet 15, 236–246 (1997). https://doi.org/10.1038/ng0397-236

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