Article
NR2F1 mutations cause optic atrophy with intellectual disability.
American journal of human genetics - 6 Feb 2014
Bosch Daniëlle G M, Boonstra F Nienke, 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, Schaaf Christian P
Abstract excerpt
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...
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