Black G C, Perveen R, Bonshek R, Cahill M, Clayton-Smith J, Lloyd I C, McLeod D
University Department of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester M13 OJH, UK.
Hum Mol Genet. 1999 Oct;8(11):2031-5. doi: 10.1093/hmg/8.11.2031.
Coats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. Both carried a missense mutation within the NDP gene on chromosome Xp11.2. Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. This supports recent observations that the protein is critical for normal retinal vasculogenesis.
科茨病的特征是视网膜血管发育异常（所谓的“视网膜毛细血管扩张”），这会导致大量视网膜内和视网膜下脂质积聚（渗出性视网膜脱离）。科茨病的经典形式几乎总是孤立的、单侧的，且多见于男性。一名患有科茨病单侧变异型的女性生下了一个患有诺里病的儿子。两人在Xp11.2染色体上的NDP基因中都携带一个错义突变。随后，对9只患有科茨病的男性摘除眼球的视网膜进行分析，发现其中1只存在NDP基因的体细胞突变，而非视网膜组织中不存在该突变。我们认为，科茨病的毛细血管扩张是NDP基因体细胞突变的继发结果，该突变导致发育中的视网膜内诺里蛋白（NDP基因的蛋白质产物）缺乏。这支持了最近的观察结果，即该蛋白对正常视网膜血管生成至关重要。
