Rosenfeld P J, Cowley G S, McGee T L, Sandberg M A, Berson E L, Dryja T P
Howe Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.
Nat Genet. 1992 Jun;1(3):209-13. doi: 10.1038/ng0692-209.
Mutations within the rhodopsin gene are known to give rise to autosomal dominant retinitis pigmentosa (RP), a common hereditary form of retinal degeneration. We now describe a patient with autosomal recessive RP who is homozygous for a nonsense mutation at codon 249 within exon 4 of the rhodopsin gene. This null mutation, the first gene defect identified in autosomal recessive retinitis pigmentosa, should result in a functionally inactive rhodopsin protein that is missing the sixth and seventh transmembrane domains including the 11-cis-retinal attachment site. We also found a different null mutation carried heterozygously by an unrelated unaffected individual. Heterozygous carriers of either mutation had normal ophthalmologic examinations but their electroretinograms revealed an abnormality in rod photoreceptor function.
已知视紫红质基因内的突变会导致常染色体显性遗传性视网膜色素变性（RP），这是一种常见的遗传性视网膜变性形式。我们现在描述一名患有常染色体隐性RP的患者，该患者在视紫红质基因第4外显子的249密码子处存在一个无义突变的纯合子。这种无效突变是在常染色体隐性视网膜色素变性中首次发现的基因缺陷，应该会导致一种功能失活的视紫红质蛋白，该蛋白缺失包括11 -顺式视黄醛附着位点在内的第六和第七个跨膜结构域。我们还发现一个无关的未受影响个体杂合携带的另一种无效突变。两种突变的杂合携带者眼科检查正常，但他们的视网膜电图显示杆状光感受器功能异常。
