A novel missense mutation of the GRK1 gene in Oguchi disease.
A novel missense mutation of the GRK1 gene in Oguchi disease.
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DOI：
10.3892/mmr.2016.5620
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发表时间：
2016-10
影响因子：
3.4
通讯作者：
Alikasifoglu M
中科院分区：
文献类型：
--
作者：
Teke MY;Citirik M;Kabacam S;Demircan S;Alikasifoglu M
小口病是一种罕见的先天性静止性夜盲症，具有常染色体隐性遗传模式。研究了s抗原（SAG）和g蛋白依赖性受体激酶1 （GRK1）突变在Oguchi病家族成员中的存在。聚合酶链反应扩增出SAG和GRK1基因的所有外显子并测序。这些患者均表现出典型的Oguchi病的临床特征。基因分析确定了一种新的GRK1突变C . 923t >C，该突变在所有兄弟姐妹中引起Oguchi病。氨基酸比对分析表明，该突变位于系统发育保守区，导致308位氨基酸从亮氨酸变为脯氨酸。因此，本研究报告了一种新的GRK1错义突变，发生在一个土耳其近亲家庭的受影响成员中。位于GRK1基因催化结构域的308位点的纯合性是这个土耳其家族中Oguchi病的原因。
Oguchi disease is a rare form of congenital stationary night blindness with an autosomal recessive inheritance pattern. The presence of S-antigen (SAG) and G-protein-dependent receptor kinase 1 (GRK1) mutations were investigated in the family members with Oguchi disease. All exons of the SAG and GRK1 genes were amplified by polymerase chain reaction and sequenced. The patients were shown to have characteristic clinical features of Oguchi disease. Gene analysis determined a novel GRK1 mutation c.923T>C, which caused Oguchi disease in all siblings. This mutation, was demonstrated by amino acid alignment analysis to be in a phylogenetically conserved region and resulted in an amino acid change from leucine to proline at position 308. Thus, the present study reports a novel missense mutation of GRK1 in the affected members of a consanguineous Turkish family. Homozygosity at position 308, which resides in the catalytic domain of the GRK1 gene, is the cause of Oguchi disease in this Turkish family.
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影响因子：
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作者：
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通讯作者：
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