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NR2F1 mutations cause optic atrophy with intellectual disability.

TitleNR2F1 mutations cause optic atrophy with intellectual disability.
Publication TypeJournal Article
Year of Publication2014
AuthorsBosch, Daniƫlle G. M., Boonstra Nienke F., Gonzaga-Jauregui Claudia, Xu Mafei, de Ligt Joep, Jhangiani Shalini, Wiszniewski Wojciech, Muzny Donna M., Yntema Helger G., Pfundt Rolph, Vissers Lisenka E. L. M., Spruijt Liesbeth, Blokland Ellen A. W., Chen Chun-An, Lewis Richard A., Tsai Sophia Y., Gibbs Richard A., Tsai Ming-Jer, Lupski James R., Zoghbi Huda Y., Cremers Frans P. M., de Vries Bert B. A., and Schaaf Christian P.
Corporate AuthorsBaylor-Hopkins Center for Mendelian Genomics
JournalAmerican journal of human genetics
Date Published2014 Feb 6
KeywordsAdolescent, Adult, Amino Acid Sequence, Child, Child, Preschool, COUP Transcription Factor I, DNA-Binding Proteins, Female, Genotype, Humans, Intellectual Disability, Male, Molecular Sequence Data, Mutation, Missense, Optic Atrophy, Phenotype, Young Adult, Zinc Fingers
AbstractOptic 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.
Alternate JournalAm. J. Hum. Genet.

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