Unknown

Dataset Information

0

NR2F1 mutations cause optic atrophy with intellectual disability.

ABSTRACT: Optic nerve atrophy and hypoplasia can be primary disorders or can result from trans-synaptic degeneration arising from cerebral visual impairment (CVI). Here we report six individuals with CVI and/or optic nerve abnormalities, born after an uneventful pregnancy and delivery, who have either de novo heterozygous missense mutations in NR2F1, also known as COUP-TFI, or deletions encompassing NR2F1. All affected individuals show mild to moderate intellectual impairment. NR2F1 encodes a nuclear receptor protein that regulates transcription. A reporter assay showed that missense mutations in the zinc-finger DNA-binding domain and the putative ligand-binding domain decrease NR2F1 transcriptional activity. These findings indicate that NR2F1 plays an important role in the neurodevelopment of the visual system and that its disruption can lead to optic atrophy with intellectual disability.

SUBMITTER: Bosch DG 

PROVIDER: S-EPMC3928641 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Optic nerve atrophy and hypoplasia can be primary disorders or can result from trans-synaptic degeneration arising from cerebral visual impairment (CVI). Here we report six individuals with CVI and/or optic nerve abnormalities, born after an uneventful pregnancy and delivery, who have either de novo heterozygous missense mutations in NR2F1, also known as COUP-TFI, or deletions encompassing NR2F1. All affected individuals show mild to moderate intellectual impairment. NR2F1 encodes a nuclear rece  ...[more]

Similar Datasets

Unknown A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
| S-EPMC4609881 | biostudies-literature
Transcriptomics NONO mutations cause syndromic intellectual disability and inhibitory synaptic defects
2015-09-02 | E-MTAB-2895 | biostudies-arrayexpress
Transcriptomics NONO mutations cause syndromic intellectual disability and inhibitory synaptic defects
2015-09-02 | E-MTAB-2894 | biostudies-arrayexpress
Unknown CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
| S-EPMC4320260 | biostudies-literature
Unknown Mutations in NSUN2 cause autosomal-recessive intellectual disability.
| S-EPMC3376487 | biostudies-literature
Transcriptomics De novo mutations in the genome organizer CTCF cause Intellectual Disability
2013-06-01 | E-GEOD-46833 | biostudies-arrayexpress
Transcriptomics De novo mutations in the genome organizer CTCF cause Intellectual Disability
2013-06-01 | GSE46833 | GEO
Unknown Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
| S-EPMC4121475 | biostudies-literature
Unknown Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
| S-EPMC5294665 | biostudies-literature
Unknown MAP1B mutations cause intellectual disability and extensive white matter deficit.
| S-EPMC6110722 | biostudies-literature