Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family
Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family
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DOI：
10.1002/pd.1734
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发表时间：
2007-07-01
影响因子：
3
通讯作者：
Tepper, Ron
中科院分区：
文献类型：
--
作者：
Reches, Adi;Yaron, Yuval;Tepper, Ron
目的描述一个Nance-Horan综合征（NHS）的产前诊断家系。该家庭接受了遗传咨询和眼科评估。结果超声诊断胎儿双侧先天性白内障。临床评估显示其他家庭成员患有白内障，导致该家庭诊断为NHS。测序证实了移码突变（3908 del 11bp）在NHS gene.Conclusion产前诊断的先天性白内障的评价应包括一个多学科的方法，结合超声医师，临床遗传学家，眼科医生和分子遗传学家的经验和投入版权所有（c）2007年约翰威利父子有限公司。
Objectives To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS).Methods The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced.Results Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del 11bp) in the NHS gene.Conclusion Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist Copyright (c) 2007 John Wiley & Sons, Ltd.