A SNP located in the 5'UTR of an alternative first exon of the CELF6 gene (rs2959930) associated with autism in male probands from AGRE using the transmission disequilibrium test (TDT). Screening for rare variants in the alternative first exon and exons 11-13 of the CELF6 gene in 384 male white ASD probands from AGRE identified a paternally-inherited nonsense variant in a male proband that showed incomplete penetrance with ASD. Disruption of CELF6 in mice resulted in animals exhibiting resistance to change and decreased ultrasonic vocalization as well as abnormal levels of serotonin in the brain (Dougherty et al., 2013).
RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing.
Type of Disorder
The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors.
Gene Name: CUGBP, Elav-like family member 6
Aliases: CELF-6; CUG-BP- and ETR-3-like factor 6; CUGBP Elav-like family member 6; RNA-binding protein BRUNOL-6; bruno-like 6, RNA binding protein; bruno-like protein 6
Human Ortholog: CELF6
# of Reports: 1
# of Models: 1
Targeted deletion of exon 4 of Celf6 introducing pre-mature stop codons resulting in nonsense mediated decay of mRNA.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified