Biallelic variants in the ELP2 gene have been shown to be responsible for a form of autosomal-recessive intellectual disability (Najmabadi et al., 2011; Cohen et al., 2015; Turkyilmaz and Sager, 2020; Dogan et al., 2021); affected individuals frequently display behavioral abnormalities such as self-injurious behavior and aggressive behavior, as well as stereotypic movements. Kojic et al. 2021 characterized eight individuals with biallelic variants in ELP2 (6 novel individuals and the two individuals originally identified in Cohen et al., 2015) and reported that autism spectrum disorder was observed in the two individuals from Cohen et al., 2015 and three novel individuals; ELP2 variants identified in patients were subsequently experimentally shown to result in impaired protein stability and reduced Elongator activity. Furthermore, modeling disease-associated ELP2 variants in mice in Kojic et al., 2021 recapitulated phenotypic features observed in patients (including developmental delay, microcephaly, motor deficits, and autistic features).
Molecular Function
The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
ELP2 is a novel gene implicated in neurodevelopmental disabilities
A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature
