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

doi:10.1038/ng0397-236

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

Research output: Contribution to journal › Article › peer-review

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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 language	English (US)
Pages (from-to)	236-246
Number of pages	11
Journal	Nature genetics
Volume	15
Issue number	3
DOIs	https://doi.org/10.1038/ng0397-236
State	Published - Mar 1997

ASJC Scopus subject areas

Genetics

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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

Allikmets, R, Singh, N, Sun, H, Shroyer, NF, Hutchinson, A, Chidambaram, A, Gerrard, B, Baird, L, Stauffer, D, Peiffer, A, Rattner, A, Smallwood, P, Li, Y, Anderson, KL, Lewis, RA, Nathans, J, Leppert, M, Dean, M & Lupski, JR 1997, 'A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy', Nature genetics, vol. 15, no. 3, pp. 236-246. https://doi.org/10.1038/ng0397-236

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

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.",

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

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AU - Hutchinson, Amy

AU - Chidambaram, Abirami

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AU - Baird, Lisa

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AU - Peiffer, Andy

AU - Rattner, Amir

AU - Smallwood, Philip

AU - Li, Yixin

AU - Anderson, Kent L.

AU - Lewis, Richard Alan

AU - Nathans, Jeremy

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AU - Dean, Michael

AU - Lupski, James R.

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

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