A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness
A mitochondrial tRNAHis gene mutation causing pigmentary retinopathy and neurosensorial deafness
复制标题
DOI：
10.1212/01.wnl.0000055865.30580.39
复制
发表时间：
2003-04-08
期刊：
影响因子：
9.9
通讯作者：
Comi, GP
中科院分区：
文献类型：
--
作者：
Crimi, M;Galbiati, S;Comi, GP
我们已经确定了一个异质性G到A突变的位置12,183线粒体。转移RNA组氨酸（tRNA（His））基因。这些表型根据突变异质性而变化：一个有严重的色素性视网膜病变、神经感觉性耳聋、睾丸功能障碍、肌肉萎缩和共济失调;另外两个只有视网膜和内耳受累。该突变位于tRNA（His）基因TpsiC茎的高度保守区域，并可能改变二级结构形成。这是第一个描述的线粒体tRNA（His）基因的致病性母系遗传突变。
We have identified a heteroplasmic G to A mutation at position 12,183 of the mitochondrial. transfer RNA Histidine (tRNA(His)) gene in three related patients. These phenotypes varied according to mutation heteroplasmy: one had severe pigmentary retinopathy, neurosensorial deafness, testicular dysfunction, muscle hypotrophy, and ataxia; the other two had only retinal and inner ear involvement. The mutation is in a highly conserved region of the TpsiC stem of the tRNA(His) gene and may alter secondary structure formation. This is the first described pathogenic, maternally inherited mutation of the mitochondrial tRNA(His) gene.