The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease:: from monogenic to multifactorial

被引：99

作者：

Shroyer, NF

Lewis, RA

Allikmets, R

Singh, N

Dean, M

Leppert, M

Lupski, JR ^{[1
]}

机构：

[1] Baylor Coll Med, Cell & Mol Biol Program, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[4] Baylor Coll Med, Dept Med, Houston, TX 77030 USA

[5] Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA

[6] Texas Childrens Hosp, Houston, TX 77030 USA

[7] NCI, Frederick Canc Res & Dev Ctr, SAIC Frederick, Intramural Res Support Program, Frederick, MD 21072 USA

[8] NCI, Frederick Canc Res & Dev Ctr, Lab Genom Divers, Frederick, MD 21072 USA

[9] Univ Utah, Eccles Inst Human Genet, Dept Human Genet, Salt Lake City, UT 84112 USA

来源：

VISION RESEARCH | 1999年 / 39卷 / 15期

基金：

美国国家卫生研究院;

关键词：

ABCR gene; ATP-binding; age-related macular degeneration; pedigree;

D O I：

10.1016/S0042-6989(99)00037-1

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

The ABCR gene encodes a rod photoreceptor specific ATP-binding cassette transporter. Mutations in ABCR are associated with at least four inherited retinal dystrophies: Stargardt disease, Fundus Flavimaculatus, cone-rod dystrophy, and retinitis pigmentosa. A statistically significant increase in heterozygous ABCR alterations has been identified in patients with age-related macular degeneration (AMD). A pedigree is described which manifests both Stargardt disease and AMD in which an ABCR mutation cosegregates with both disease phenotypes. These data from this case report support the hypothesis that ABCR is a dominant susceptibility locus for AMD. Recent work regarding ABCR is reviewed and a model is presented in which decreased ABCR function correlates with severity of retinal disease. (C) 1999 Published by Elsevier Science Ltd. All rights reserved.

引用

页码：2537 / 2544

页数：8

共 52 条

[1] A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy (vol 15, pg 236, 1997) [J].