A NULL MUTATION IN THE RHODOPSIN GENE CAUSES ROD PHOTORECEPTOR DYSFUNCTION AND AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
A NULL MUTATION IN THE RHODOPSIN GENE CAUSES ROD PHOTORECEPTOR DYSFUNCTION AND AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
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DOI：
10.1038/ng0692-209
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发表时间：
1992-06-01
期刊：
影响因子：
30.8
通讯作者：
DRYJA, TP
中科院分区：
文献类型：
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作者：
ROSENFELD, PJ;COWLEY, GS;DRYJA, TP
视紫红质基因的突变已知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。我们现在描述一例常染色体隐性遗传性视紫红质基因第4外显子249密码子的无义突变纯合子患者。这个零突变是在常染色体隐性遗传性视网膜色素变性中发现的第一个基因缺陷，应该导致功能不活跃的视紫红质蛋白缺失第六和第七跨膜结构域，包括11顺式视网膜附着部位。我们还发现了一个不同的零突变，由一个不相关的未受影响的个体杂合携带。任何一种突变的杂合子携带者眼科检查正常，但他们的视网膜电信号显示视杆感光功能异常。
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.