先天性珊瑚形白内障是CRYGD基因中反复发生突变的主要后果
Kai-Jie Wang1, Jue-Xue Wang1, Jin-Da Wang1
1Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, 100730, Beijing, China.
Orphanet journal of rare diseases
|July 21, 2023
概括
CRYGD基因的反复突变,p.P24T,经常在中国家族中发现具有先天性珊瑚形白内障. 这一发现突显了这种罕见的童年失明形式的潜在突变热点.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 先天性白内障是儿童失明的主要原因,珊瑚形白内障是一种罕见的亚型.
- 玛-D晶体 (CRYGD) 基因的突变与先天性珊瑚形白内障有关,但基因型-表型相关性需要进一步调查.
研究的目的:
- 在中国患有先天性珊瑚形白内障的患者中确定CRYGD基因突变的频谱和频率.
- 为了确定中国人群中珊瑚形白内障的基因型-表型相关性.
主要方法:
- 从2011年到2021年,审查了392个患有先天性白内障的中国家庭的医疗记录.
- 使用PCR放大和直接测序对CRYGD基因突变进行了先天性珊瑚形白内障的家庭查.
主要成果:
- 12个家庭 (3.1%) 患有先天性珊瑚形白内障;所有受影响的个体均患有双边,从出生就存在的非渐进性白内障.
- 其中10个家族 (83.3%) 发现了一种复发的CRYGD突变,c.70 C>A (p.P24T).
- 这种突变与受影响的个体共分离,在不受影响的亲属和对照中缺席.
结论:
- 中国家庭的先天性珊瑚形白内障通常与p.P24T CRYGD突变有关.
- 经常出现的p.P24T突变可能代表了一个突变热点,加强了CRYGD突变和珊瑚形白内障之间的联系.
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