Visual impairment gene defects identified


In the online ahead of print issue of the prestigious genetics journal American Journal of Human Genetics (23 January 2014,doi:10.1016/j.ajhg.2014.01.002) researchers of the Dept. of Human Genetics, Radboud university medical center,  (Daniëlle Bosch, Frans Cremers and Bert de Vries), together with Nienke Boonstra from the Bartiméus Institute, Zeist,  and collaborators from the Baylor College of Medicine, Houston, USA, (Claudia Gonzaga-Jauregui  and Christian Schaaf) report on the identification of defects in a gene, NR2F1, underlying optic atrophy, cerebral visual impairment and intellectual disability

Congenital visual impairment is often the result of optic nerve abnormalities and/or malfunctioning of the brain (cerebral visual impairment). The Nijmegen-Houston groups report six individuals with cerebral visual impairment and/or optic nerve abnormalities, born after an uneventful pregnancy and delivery, in which a genetic defect of NR2F1 was identified.  All affected individuals show mild to moderate intellectual impairment. In  two affected individuals heterozygous deletions of NR2F1 were identified whereas in the other four individuals heterozygous amino acid changes were found, which were not present in the healthy parents. NR2F1 codes for a protein that regulates the transcription of several other genes. Additional functional analysis showed that the mutations decrease NR2F1 transcriptional activity. These findings indicate that NR2F1 plays an important role in the neural development of the visual system and that its disruption can lead to optic atrophy with intellectual disability.


 Bosch , Danielle           Cremers, Frans       Vries De , Bert

Danielle Bosch                        Frans Cremers                     Bert de Vries

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