Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family

Adi Reches; Yuval Yaron; Kathryn Burdon; Ornit Crystal-Shalit; Dvora Kidron; Mira Malcov; Ron Tepper

doi:10.1002/pd.1734

Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family

Adi Reches, Yuval Yaron^*, Kathryn Burdon, Ornit Crystal-Shalit, Dvora Kidron, Mira Malcov, Ron Tepper

^*Corresponding author for this work

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Abstract

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 (3908del11bp) 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.

Original language	English
Pages (from-to)	662-664
Number of pages	3
Journal	Prenatal Diagnosis
Volume	27
Issue number	7
DOIs	https://doi.org/10.1002/pd.1734
State	Published - Jul 2007

Keywords

Congenital cataract
Nance-Horan syndrome
Prenatal diagnosis

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10.1002/pd.1734

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abstract = "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 (3908del11bp) 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.",

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AU - Reches, Adi

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AU - Burdon, Kathryn

AU - Crystal-Shalit, Ornit

AU - Kidron, Dvora

AU - Malcov, Mira

AU - Tepper, Ron

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Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family

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