与ADAMTS17突变相关的韦尔-马切萨尼综合征的特征和基因型-表型相关性
Dongwei Guo1, Liyan Liu1, Fengmei Yang1
1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, Guangdong Province, China.
Experimental eye research
|July 28, 2023
概括
与ADAMTS17基因突变相关的韦尔-马切萨尼综合征 (WMS) 呈现出长和矮身. 这项研究在WMS患者中发现了新的突变和以前未报告的膜心脏病相关性.
科学领域:
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
- 心脏病学 心脏病学
背景情况:
- 威尔-马切萨尼综合征 (WMS) 是一种遗传性疾病,其特征是长 (ectopia lentis,简称EL),微球 (microspherophakia) 和矮身.
- 已知ADAMTS10,LTBP2或ADAMTS17基因的突变是导致WMS的原因.
研究的目的:
- 调查与ADAMTS17基因突变相关的WMS的特定特征和基因型-表型相关性.
- 在EL患者中识别新型ADAMTS17变异并分析其致病性.
主要方法:
- 185名患有EL的患者进行了全外体序列测序,以确定ADAMTS17变异.
- 对受影响的个体进行了全面的眼睛和系统检查.
- 生物信息学分析,共同分离,物种序列分析和in silico蛋白质建模被用于验证突变.
主要成果:
- 在四个WMS试验组中发现了六种新的ADAMTS17突变 (2.16%的EL队列).
- 所有试验者及其父母都表现出矮身.
- 一名患者出现了膜心脏病,这是ADAMTS17相关的WMS中以前未报告的发现.
结论:
- 矮身是EL患者具有ADAMTS17突变的一个重要的临床线索.
- 膜心脏病需要在患有ADAMTS17相关WMS的个体中增加临床关注.
- 这项研究扩大了对ADAMTS17突变相关WMS的基因型-表型相关性的理解.
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