Poster preview
ePoster
IN-VIVO MODEL CHARACTERIZATION OF BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME
Giovanni Merollaand 4 co-authors
Universitatsklinikum Heidelberg
FENS Forum 2026 (2026)
Barcelona, Spain
Board PS06-09PM-079
Presentation
Date TBA
Board: PS06-09PM-079
Event Information
Poster Board
PS06-09PM-079
Poster
View posterAbstract
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by perturbations in the NR2F1 gene. Key features of BBSOAS are developmental delay, optic atrophy, intellectual disability, autism spectrum disorder, and other neurological symptoms. Previous in-vivo investigations into the role of NR2F1 have been largely performed in constitutive and tissue-specific knockout (KO) mouse lines. However, most BBSOAS cases are related to missense mutations in the DNA-binding domain (DBD) and in the ligand-binding domain (LDB). Since NR2F1 can work as a homodimer or as a heterodimer with other co-factors, a dominant-negative effect has been proposed. This study aims to compare the heterozygous constitutive KO mouse model and two other mouse lines carrying patient-specific NR2F1 point mutations, falling into the DBD and the LBD, respectively, with the wild-type.
Recommended posters
DISRUPTION OF NR2F1 DNA-BINDING ACTIVITY COMPROMISES CORTICAL DEVELOPMENT AND BRAIN INTEGRITY
Anne Amandine Chassot, Annabelle Mantilleri, Lea Lanteri, Reanne Fronteiro, Michele Bertacchi, Michèle Studer
NR2F1 DEFICIENCY CAUSES NEURONAL MITOCHONDRIAL DYSFUNCTION ACROSS MOUSE AND HUMAN MODELS OF THE NEURODEVELOPMENTAL DISORDER BBSOAS
Eleonora Dallorto, Sara Bonzano, Michele Bertacchi, Gwendoline Maharaux, Michèle Studer, Silvia De Marchis
EXPLORING GLIAL INVOLVEMENT IN A MOUSE MODEL OF NR2F1-RELATED NEURODEVELOPMENTAL DISORDER
Annapaola Lippolis, Eleonora Dallorto, Andrea Emilia Barbero, Michèle Studer, Silvia De Marchis, Sara Bonzano
NR2F1 HAPLOINSUFFICIENCY ALTERS DENTATE GYRUS INHIBITORY CONTROL AND SHORT-TERM SPATIAL MEMORY IN A BBSOAS NEURODEVELOPMENTAL DISORDER MOUSE MODEL
Eleonora Dallorto, Enis Hidisoglu, Sara Bonzano, Antonino Casile, Giulia Bonifazio, Giuseppe Chiantia, Annapaola Lippolis, Marco Sassoe'-Pognetto, Michèle Studer, Andrea Marcantoni, Silvia De Marchis
DISSECTING THE PATHOMOLECULAR MECHANISMS OF PRR12 GENE LOSS LEADING TO NEURODEVELOPMENTAL AND EYE ABNORMALITIES
Irina Cutei, Thomas Behrens, Alessandro Sessa, Vania Broccoli
BASIS OF PHYSIOPATHOLOGY IN A NOVEL MURINE MODEL OF AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA TYPE 10 BY MUTATIONS IN INOSINE MONOPHOSPHATE DEHYDROGENASE 1
Xavier Vallvé Martínez, Emma Cerrato Valtueña, Santiago Milla Navarro, Pau Blanco, Pedro de la Villa, Ana Méndez