Dry K L, Manson F D, Lennon A, Bergen A A, Van Dorp D B, Wright A F
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
Hum Mutat. 1999;13(2):141-5. doi: 10.1002/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q.
We have identified a novel RPGR gene mutation in a large Dutch family with X-linked retinitis pigmentosa (RP3). In affected members, a G-->T transversion was found at position +1 of the 5' splice site of intron 5 of the RPGR (retinitis pigmentosa GTPase regulator) gene. Analysis of this mutation at the RNA level showed cryptic splicing upstream of the mutation in exon 5 leading to a frameshift and downstream termination codon. Identification of the causative mutation in this family has facilitated the detection of females at risk of having an affected son.
我们在一个患有X连锁视网膜色素变性（RP3）的荷兰大家族中发现了一种新的RPGR基因突变。在受影响的成员中，在RPGR（视网膜色素变性GTP酶调节蛋白）基因第5内含子5'剪接位点的+1位置发现了一个G→T颠换。在RNA水平对该突变的分析显示，外显子5中该突变上游存在隐蔽剪接，导致移码和下游终止密码子。该家族中致病突变的鉴定有助于检测有生育患病儿子风险的女性。
