[关键词]
[摘要]
目的：对先天性无虹膜合并先天性白内障家系进行PAX6基因突变位点筛查，丰富该致病基因的突变谱。
方法：选取就诊于北京同仁医院眼科门诊的1个先天性无虹膜合并先天性白内障家系和100名健康志愿者，采集外周静脉血，提取基因组DNA，采用直接测序法进行PAX6基因突变位点的筛查。
结果：该家系中先证者和其他患者均表现为无虹膜合并白内障，PAX6基因测序结果显示，该致病基因第11外显子无义突变c.991 C>T，造成PAX6基因编码的蛋白截短(R331X)，从而使该蛋白失去功能，且该突变在家系内与疾病表型共分离，不存在于家系内及家系外健康样本的基因中。
结论：PAX6 R331X突变与先天性无虹膜合并先天性白内障的发生有关。
[Key word]
[Abstract]
AIM: To identify the potential mutation in a Chinese family affected with congenital aniridia and cataract, which can expands the mutation spectrum of antosomal dominant congenital aniridia.
METHODS: A Chinese family with congenital aniridia and cataract and 100 unrelated controls were recruited, peripheral venous blood was collected for genomic DNA extraction. Candidate genes sequencing was performed by direct DNA sequencing to screen out the PAX6 mutation.
RESULTS: All affected individuals in the family showed aniridia and cataract. A novel non-sense mutation c.991 C>T in exon 11 of PAX6 was exclusively observed in all affected individuals but not in any of the unaffected family members or unrelated controls, which results in the truncation of encoding protein(R331X).
CONCLUSION: We identified a novel mutation in the PAX6 R331X, which may be responsible for the pathogenesis of congenital aniridia and cataract.
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[基金项目]
