title: Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.
abstract: 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.
authors: Lis Maternity hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors: Adi
authors: A
authors: Reches
authors: Yuval
authors: Y
authors: Yaron
authors: Kathryn
authors: K
authors: Burdon
authors: Ornit
authors: O
authors: Crystal-Shalit
authors: Dvora
authors: D
authors: Kidron
authors: Mira
authors: M
authors: Malcov
authors: Ron
authors: R
authors: Tepper
mesh_terms: 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
chemical_list: D008565:Membrane Proteins; C488621:NHS protein, human; D009687:Nuclear Proteins