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A Photoreceptor Cell-Specific Atp-Binding Transporter Gene (Abcr) Is Mutated in Recessive Stargardt Macular Dystrophy

  1. Author:
    Allikmets, R.
    Singh, N.
    Sun, H.
    Shroyer, N. E.
    Hutchinson, A.
    Chidambaram, A.
    Gerrard, B.
    Baird, L.
    Stauffer, D.
    Peiffer, A.
    Rattner, A.
    Smallwood, P.
    Li, Y. X.
    Anderson, K. L.
    Lewis, R. A.
    Nathans, J.
    Leppert, M.
    Dean, M.
    Lupski, J. R.

  2. Author Address

    Dean M NCI FREDERICK CANC RES & DEV CTR SAIC FREDERICK LAB GEN DIVERS FREDERICK, MD 21702 USA NCI FREDERICK CANC RES & DEV CTR SAIC FREDERICK LAB GEN DIVERS FREDERICK, MD 21702 USA NCI FREDERICK CANC RES & DEV CTR SAIC FREDERICK INTRAMURAL RES SUPPORT PROGRAM FREDERICK, MD 21702 USA UNIV UTAH DEPT HUMAN GENET SALT LAKE CITY, UT 84112 USA JOHNS HOPKINS UNIV SCH MED DEPT MOL BIOL & GENET BALTIMORE, MD 21205 USA JOHNS HOPKINS UNIV SCH MED DEPT NEUROSCI BALTIMORE, MD 21205 USA JOHNS HOPKINS UNIV SCH MED DEPT OPHTHALMOL BALTIMORE, MD 21205 USA JOHNS HOPKINS UNIV SCH MED HOWARD HUGHES MED INST BALTIMORE, MD 21205 USA BAYLOR COLL MED DEPT MOL & HUMAN GENET HOUSTON, TX 77030 USA BAYLOR COLL MED DEPT PEDIAT HOUSTON, TX 77030 USA BAYLOR COLL MED DEPT OPHTHALMOL HOUSTON, TX 77030 USA BAYLOR COLL MED DEPT MED HOUSTON, TX 77030 USA
    1. Year: 1997
  2. Journal: Nature Genetics
    1. 15
    2. 3
    3. Pages: 236-246
  4. Type of Article: Article
  1. 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. [References: 77]

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