A de novo frameshift variant in the CELF2 gene was identified in an ASD proband from the Autism Simplex Collection in Yuen et al., 2017. Itai et al., 2021 characterized five unrelated individuals with heterozygous CELF2 variants presenting with developmental and epileptic encephalopathy; autistic features were reported in four of five individuals in this report, and variants identified in patients with developmental and epileptic encephlopathy in this report were experimentally shown to cause aberrant CELF2 cellular localization in transfected cells. Whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control donors in Rodin et al., 2021 identified an additional germline loss-of-function variant in CELF2 in brain tissue from a 67-year-old African American male with ASD from the University of Maryland brain bank.
Molecular Function
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
