中国一个家族中与常染色体显性缝合性白内障相关的CRYBA1/A3基因G→T剪接位点突变
A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.
作者信息
Yang Zhenfei, Li Qian, Ma Zicheng, Guo Yuanyuan, Zhu Siquan, Ma Xu
机构信息
Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China.
出版信息
Mol Vis. 2011;17:2065-71. Epub 2011 Aug 5.
PURPOSE
To identify the genetic defect in a five-generation Chinese family with congenital Y-suture cataracts.
METHODS
A five-generation Chinese family with inherited Y-suture cataract phenotype was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation.
RESULTS
The congenital cataract phenotype of the family was identified as Y-suture cataract type by using slit-lamp photography. Direct sequencing revealed a G→T splice site mutation in crystallin, beta A1 (CRYBA1/A3).This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members or 100 unrelated controls.
CONCLUSIONS
Our study identified a novel type of a splice site mutation in CRYBA1/A3 .The mutation was responsible for the congenital Y-suture cataracts in the family. This is the first report relating a G→T mutation of CRYBA1/A3 to congenital Y-suture cataract.
目的
确定一个患有先天性Y形缝白内障的五代中国家系的基因缺陷。
方法
招募了一个具有遗传性Y形缝白内障表型的五代中国家系。记录该家系详细的家族史和临床资料。进行候选基因测序以筛选出致病突变。
结果
通过裂隙灯照相术，该家系的先天性白内障表型被确定为Y形缝白内障类型。直接测序显示在晶状体βA1（CRYBA1/A3）中有一个G→T剪接位点突变。此突变与该家系所有患病个体共分离，且在未患病家庭成员或100名无关对照中未发现。
结论
我们的研究在CRYBA1/A3中鉴定出一种新型剪接位点突变。该突变导致了该家系的先天性Y形缝白内障。这是首次报道CRYBA1/A3的G→T突变与先天性Y形缝白内障相关。
Zotero 插件