Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies

被引:120
作者
Allikmets, R
Seddon, JM
Bernstein, PS
Hutchinson, A
Atkinson, A
Sharma, S
Gerrard, B
Li, W
Metzker, ML
Wadelius, C
Caskey, CT
Dean, M
Petrukhin, K
机构
[1] Columbia Univ, Dept Ophthalmol, New York, NY 10032 USA
[2] Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Dept Ophthalmol, Boston, MA 02114 USA
[3] Univ Utah, Moran Eye Ctr, Dept Ophthalmol, Salt Lake City, UT 84132 USA
[4] Merck Res Labs, Dept Human Genet, W Point, PA 19486 USA
[5] Univ Uppsala Hosp, Clin Genet Unit, Dept Genet & Pathol, S-75185 Uppsala, Sweden
[6] NCI, Frederick Canc Res & Dev Ctr, Lab Gen Divers, Frederick, MD 21702 USA
[7] NCI, Frederick Canc Res & Dev Ctr, SAIC, Intramural Res Support Program, Frederick, MD 21702 USA
[8] Columbia Univ, Dept Ophthalmol, New York, NY 10027 USA
关键词
D O I
10.1007/s004390050986
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Vitelliform macular dystrophy (VMD2, Best disease, MIM153700) is an early onset, autosomal, dominant macular degeneration characterized by the deposition of lipofuscin-like material within and below the retinal pigment epithelium (RPE); it is associated with degeneration of the RPE and overlying photoreceptors. Recently, we cloned the gene bestrophin, which is responsible for the disease, and identified a number of causative mutations in families with VMD2. Here, we report that the analysis of bestrophin in a collection of 259 age-related macular degeneration (AMD) patients provides evidence that mutations in the Best disease gene do not play a significant role in the predisposition of individuals to AMD. However, our results suggest that, in addition to Best disease, mutations within the bestrophin gene could be responsible for other forms of maculopathy with phenotypic characteristics similar to Best disease and for other diseases not included in the VMD category.
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收藏
页码:449 / 453
页数:5
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