Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
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DOI：
10.1038/sj.ejhg.5200205
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发表时间：
1998-09-01
影响因子：
5.2
通讯作者：
Hamel, CP
中科院分区：
文献类型：
--
作者：
Marlhens, F;Griffoin, JM;Hamel, CP
视网膜营养不良是一种复杂的视网膜遗传性疾病，导致光受体退化。最近的研究表明，RPE65基因突变导致严重的早发性视网膜营养不良，RPE65是一种编码视网膜色素上皮（RPE）特异性蛋白的基因，该蛋白被认为参与il -顺式类视黄醇代谢，这是视力的关键过程。在患有常染色体隐性视网膜营养不良的复合杂合子中，与这些突变相关的相对温和的表型表明疾病的严重程度与RPE65基因突变类型之间可能存在联系。
Retinal dystrophies are a complex set of hereditary diseases of the retina that result in the degeneration of photoreceptors, Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)specific protein thought to be involved in the Il-cis-retinoid metabolism, a key process in vision, cause severe, early onset retinal dystrophy, We describe two novel missense RPE65 mutations, L22P and H68Y, in a compound heterozygote with autosomal recessive retinal dystrophy, The relatively mild phenotype associated with these mutations suggests a possible link between the severity of the disease and the type of mutations in the RPE65 gene.