Presentation is loading. Please wait.

Presentation is loading. Please wait.

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Published byShanon Carpenter Modified over 6 years ago

Similar presentations

Presentation on theme: "NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability"— Presentation transcript:

1 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 (February 2014) DOI: /j.ajhg Copyright © 2014 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Phenotype and Genotype of the Individuals with Optic Atrophy
(A) Confirmation by Sanger sequencing of the de novo mutations in NR2F1 [NM_ ] 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  , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

3 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  , DOI: ( /j.ajhg ) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Download ppt "NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability"

Similar presentations

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
Inhibition of SOX17 by MicroRNA 141 and Methylation Activates the WNT Signaling Pathway in Esophageal Cancer  Yan Jia, Yunsheng Yang, Qimin Zhan, Malcolm.

Inhibition of SOX17 by MicroRNA 141 and Methylation Activates the WNT Signaling Pathway in Esophageal Cancer  Yan Jia, Yunsheng Yang, Qimin Zhan, Malcolm.
Constitutive NF-κB activation by the t(11;18)(q21;q21) product in MALT lymphoma is linked to deregulated ubiquitin ligase activity  Honglin Zhou, Ming-Qing.

Constitutive NF-κB activation by the t(11;18)(q21;q21) product in MALT lymphoma is linked to deregulated ubiquitin ligase activity  Honglin Zhou, Ming-Qing.
Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome  Janneke H.M.

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome  Janneke H.M.
Novel Functional Single Nucleotide Polymorphisms in the Latent Transforming Growth Factor-β Binding Protein-1L Promoter  Tomomi Higashi, Satoru Kyo, Masaki.

Novel Functional Single Nucleotide Polymorphisms in the Latent Transforming Growth Factor-β Binding Protein-1L Promoter  Tomomi Higashi, Satoru Kyo, Masaki.
Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia by Hironori.

Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia by Hironori.
Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E

Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E
Volume 5, Issue 4, Pages (April 2004)

Volume 5, Issue 4, Pages (April 2004)
Inhibition of SOX17 by MicroRNA 141 and Methylation Activates the WNT Signaling Pathway in Esophageal Cancer  Yan Jia, Yunsheng Yang, Qimin Zhan, Malcolm.

Inhibition of SOX17 by MicroRNA 141 and Methylation Activates the WNT Signaling Pathway in Esophageal Cancer  Yan Jia, Yunsheng Yang, Qimin Zhan, Malcolm.
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering  M. Hashim Raza, Rafael Mattera, Robert.

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering  M. Hashim Raza, Rafael Mattera, Robert.
Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder  Deena M. Leslie Pedrioli, Dun Jack Fu, Emilio Gonzalez-Gonzalez,

Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder  Deena M. Leslie Pedrioli, Dun Jack Fu, Emilio Gonzalez-Gonzalez,
Diagnostic Genome Profiling in Mental Retardation

Diagnostic Genome Profiling in Mental Retardation
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis  Francesca Mattioli,

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis  Francesca Mattioli,
Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency 

Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′ Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency 
ATM Gene Mutations Result in Both Recessive and Dominant Expression Phenotypes of Genes and MicroRNAs  Denis A. Smirnov, Vivian G. Cheung  The American.

ATM Gene Mutations Result in Both Recessive and Dominant Expression Phenotypes of Genes and MicroRNAs  Denis A. Smirnov, Vivian G. Cheung  The American.
Volume 87, Issue 7, Pages (December 1996)

Volume 87, Issue 7, Pages (December 1996)
Kenneth E. White, Jose M. Cabral, Siobhan I

Kenneth E. White, Jose M. Cabral, Siobhan I
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability 

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability 
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal- Recessive Osteogenesis Imperfecta  Jutta Becker, Oliver Semler, Christian.

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal- Recessive Osteogenesis Imperfecta  Jutta Becker, Oliver Semler, Christian.

Similar presentations

Ads by Google