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

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 dem...

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Published in:Prenatal diagnosis 2007-07, Vol.27 (7), p.662-664
Main Authors: Reches, Adi, Yaron, Yuval, Burdon, Kathryn, Crystal‐Shalit, Ornit, Kidron, Dvora, Malcov, Mira, Tepper, Ron
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Cataract - congenital
Cataract - diagnosis
congenital cataract
Female
Fundamental and applied biological sciences. Psychology
Gynecology. Andrology. Obstetrics
Humans
Male
Management. Prenatal diagnosis
Medical sciences
Molecular and cellular biology
Nance‐Horan syndrome
Nuclear Proteins - genetics
Pedigree
Pregnancy
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
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Summary: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 Copyright © 2007 John Wiley & Sons, Ltd.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.1734