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


CONCLUSIONS
Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.
Reches
Adi
A
Lis Maternity hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Yaron
Yuval
Y
Burdon
Kathryn
K
Crystal-Shalit
Ornit
O
Kidron
Dvora
D
Malcov
Mira
M
Tepper
Ron
R
D000328:Adult; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
D008565:Membrane Proteins; C488621:NHS protein, human; D009687:Nuclear Proteins