NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

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NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability Daniëlle G.M. Bosch, F. Nienke Boonstra, Claudia Gonzaga-Jauregui, Mafei Xu, Joep de Ligt, Shalini Jhangiani, Wojciech Wiszniewski, Donna M. Muzny, Helger G. Yntema, Rolph Pfundt, Lisenka E.L.M. Vissers, Liesbeth Spruijt, Ellen A.W. Blokland, Chun-An Chen, Richard A. Lewis, Sophia Y. Tsai, Richard A. Gibbs, Ming-Jer Tsai, James R. Lupski, Huda Y. Zoghbi, Frans P.M. Cremers, Bert B.A. de Vries, Christian P. Schaaf The American Journal of Human Genetics Volume 94, Issue 2, Pages 303-309 (February 2014) DOI: 10.1016/j.ajhg.2014.01.002 Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Figure 1 Phenotype and Genotype of the Individuals with Optic Atrophy (A) Confirmation by Sanger sequencing of the de novo mutations in NR2F1 [NM_005654.4] found by exome sequencing (individuals 1, 2, and 6), the de novo mutation in NR2F1 found by cohort screening (individual 3), and segregation analyses. The pictures of the individuals show nonspecific facial dysmorphisms. (B) Schematic representation of NR2F1, containing a DNA-binding domain (DBD) and a ligand-binding domain (LBD). The positions of the mutations identified in the affected individuals are indicated. (C) Overview of the 5q14-q15 region encompassing the two overlapping microdeletions of individual 4 (lower red bar) and 5 (upper red bar) comprising NR2F1. The inheritance of the deletion in individual 4 was unknown, because the father was not available for testing and the deletion was on the paternal allele. The deletion of individual 5 was de novo. The pictures of the affected individuals show nonspecific facial dysmorphisms. The American Journal of Human Genetics 2014 94, 303-309DOI: (10.1016/j.ajhg.2014.01.002) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Figure 2 In Vitro Luciferase Reporter Assay for NR2F1 Point Mutations Effects of the Nr2f1 (COUP-TFI) mutations on activation of an NGFI-A promoter-driven reporter. Top shows that pXP2-NGFI-A was cotransfected with 5 ng FLAG-tagged Nr2f1 (COUP-TFI) WT, FLAG-tagged Nr2f1 (COUP-TFI) mutations or empty vector into HEK293T cells as indicated. The cell sample transfected with pXP2-NGFI-A and vector served as the control, and its value (relative luciferase activity) was set as 1. The relative luciferase activities of the other samples are normalized to this control. Data are means ± SD (n = 3). Bottom shows immunoblot analysis of Nr2f1 (COUP-TFI) expression in transfection. Results indicate similar expression of WT and mutant Nr2f1 (COUP-TFI) constructs. The American Journal of Human Genetics 2014 94, 303-309DOI: (10.1016/j.ajhg.2014.01.002) Copyright © 2014 The American Society of Human Genetics Terms and Conditions