CCM1/KRIT1基因中的剪接位点突变与视网膜及脑海绵状血管瘤相关。
A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.
作者信息
Kitzmann Anna S, Pulido Jose S, Ferber Matthew J, Highsmith W Edward, Babovic-Vuksanovic Dusica
机构信息
Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA.
出版信息
Ophthalmic Genet. 2006 Dec;27(4):157-9. doi: 10.1080/13816810600977168.
PURPOSE
To report a case of a unilateral retinal cavernous hemangioma associated with a novel splice-site mutation in CCM1/KRIT1.
METHODS
An 11-year-old girl was noted to have an asymptomatic retinal cavernous hemangioma in the left eye. CCM1/KRIT1 was screened for mutations.
RESULTS
Genetic evaluation of CCM1/KRIT1 revealed a single guanine-to-cytosine transversion in the invariant splice acceptor consensus sequence of intron 8 (c.1146-1G-->C), which is predicted to result in abnormal protein splicing.
CONCLUSIONS
Mutations in CCM1/KRIT1 may be found in asymptomatic patients with retinal cavernous hemangioma.
目的
报告一例单侧视网膜海绵状血管瘤病例，该病例与CCM1/KRIT1基因的一种新型剪接位点突变相关。
方法
一名11岁女孩被发现左眼有无症状性视网膜海绵状血管瘤。对CCM1/KRIT1进行突变筛查。
结果
CCM1/KRIT1的基因评估显示，第8内含子的不变剪接受体共有序列中发生了单个鸟嘌呤到胞嘧啶的颠换（c.1146-1G→C），预计这会导致蛋白质剪接异常。
结论
在无症状的视网膜海绵状血管瘤患者中可能发现CCM1/KRIT1基因的突变。
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