鳃裂-眼-面综合征的眼部表现：一例新突变报告及文献复习
Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
作者信息
Al-Dosari M S, Almazyad M, Al-Ebdi L, Mohamed J Y, Al-Dahmash Saad, Al-Dhibi Hassan, Al-Kahtani Eman, Al-Turkmani Shahira, Alkuraya Hisham, Hall B D, Alkuraya F S
机构信息
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
出版信息
Mol Vis. 2010 May 8;16:813-8.
PURPOSE
To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).
METHODS
Full ophthalmological evaluation and direct sequencing of TFAP2A.
RESULTS
A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified.
CONCLUSIONS
This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.
目的
报告由激活增强子结合蛋白2α（TFAP2A）的新型突变引起的鳃-眼-面综合征（BOFS）的异常眼部表现。
方法
进行全面的眼科评估和TFAP2A的直接测序。
结果
鉴定出一名10岁女孩，患有BOFS的异常眼部表现，如椭圆形小角膜，并发现了一种新的TFAP2A新生突变。
结论
本报告扩展了BOFS的眼部表型谱，并增加了少数已报道的TFAP2A突变。
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