Genetic association has been found between the FEZF2 gene and autism in two large cohorts (AGRE and ACC) of European ancestry and replicated in two other cohorts (CAP and CART) (Wang et al., 2009). In addition, a rare mutation in the FEZF2 gene has been identified in an individual with ASD (Sanders et al., 2012). A de novo loss-of-function variant in FEZF2 was identified in an ASD proband from the SPARK cohort in Feliciano et al., 2019; in the same report, a meta-analysis of de novo variants in 4773 published ASD trios and 465 SPARK trios using TADA identified FEZF2 as an ASD candidate gene with a q-value 0.1.
Regulation of transcription
Type of Disorder
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Homologous recombination of exons containing the coding region (amino acids 27-455) of Fezf2 gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Description: Decreased number of subplate neuron stainings in dorsal and lateral cortex; decreased chondroitin sulfate proteoglycan (CSPG)-rich subplate region; No Change in layer formation of cortex
Exp Paradigm: Anti-GAP43 and anti-chondroiton immunohistochemical analysis of coronal sections; Nissl and hematoxylin-eosin staining
Description: Decreased number of L-1 positive thalamocortical axons (TCA) extending to cortex; Abberant location in telencephalon
Exp Paradigm: Immunohistochemical Analysis of coronal sections with an anti-L1 antibody and an anti-TAG1 antibody