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

Rando Allikmets, Nanda Singh, Hui Sun, Noah F. Shroyer, Amy Hutchinson, Abirami Chidambaram, Bernard Gerrard, Lisa Baird, Dora Stauffer, Andy Peiffer, Amir Rattner, Philip Smallwood, Yixin Li, Kent L. Anderson, Richard Alan Lewis, Jeremy Nathans, Mark Leppert, Michael Dean, James R. Lupski

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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.

Original languageEnglish (US)
Pages (from-to)236-246
Number of pages11
JournalNature genetics
Volume15
Issue number3
DOIs
StatePublished - Mar 1 1997

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ASJC Scopus subject areas

  • Genetics

Cite this

Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., Rattner, A., Smallwood, P., Li, Y., Anderson, K. L., Lewis, R. A., Nathans, J., Leppert, M., Dean, M., & Lupski, J. R. (1997). A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature genetics, 15(3), 236-246. https://doi.org/10.1038/ng0397-236