Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance‐Horan syndrome in the extended family
- 24 April 2007
- journal article
- case report
- Published by Wiley in Prenatal Diagnosis
- Vol. 27 (7) , 662-664
- https://doi.org/10.1002/pd.1734
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 Copyright © 2007 John Wiley & Sons, Ltd.Keywords
This publication has 9 references indexed in Scilit:
- Early sonographic detection of recurrent fetal eye anomaliesUltrasound in Obstetrics & Gynecology, 2004
- Identification of the gene for Nance-Horan syndrome (NHS)Journal of Medical Genetics, 2004
- Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental RetardationAmerican Journal of Human Genetics, 2003
- The genetics of childhood cataractJournal of Medical Genetics, 2000
- Mental retardation in Nance-Horan syndrome: Clinical and neuropsychological assessment in four familiesAmerican Journal of Medical Genetics, 1997
- The Nance-Horan syndrome.Journal of Medical Genetics, 1990
- Reduction of head flattening in preterm infants.Archives of Disease in Childhood, 1988
- The Nance‐Horan syndrome: a rare X‐linked ocular‐dental trait with expression in heterozygous femalesClinical Genetics, 1984
- A Family with X-Chromosomal Recessive Congenital Cataract, Microphthalmia, a Peculiar Form of the Ear and Dental AnomaliesJournal of Pediatric Ophthalmology & Strabismus, 1979