Relevance to Autism

A complex de novo chromosomal rearrangement disrupting the CELF4 gene was identified in a male patient with borderline IQ, developmental and behavioral disorders (inlcuding autistic behavior), myopia, obesity, and febrile seizures in childhood (Halgren et al., 2012). Two de novo loss-of-function (LoF) variants in this gene have been identified in ASD probands (Krumm et al., 2015; Lim et al., 2017). A familial 18q12.2 deletion with a distal breakpoint within intron 2 of the CELF4 gene was identified in a 7-year-old female proband diagnosed with autism and syndromic intellectual disability and her mother, who presented with intellectual disability and autistic behavior (Barone et al., 2017).

Molecular Function

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. When expressed ubiquitously, CELF4 is strongly expressed in the cerebellum, hippocampus, amygdala, temporal and frontal cortex and frontal lobes.

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Model Summary

Altered excitatory neurotransmission resulting from Celf4 deficiency underlies the complex seizure disorder in Celf4 mutant mice.

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