De novo variants in the ANKRD17 gene, including a frameshift variant and several missense variants, have been identified in ASD probands from the Simons Simplex Collection, the Autism Sequencing Consortium, and AGRE (De Rubeis et al., 2014; Iossifov et al., 2014; Yuen et al., 2017; Satterstrom et al., 2020). Chopra et al., 2021 reported 34 individuals from 32 families with heterozygous ANKRD17 variants and delineated a neurodevelopmental disorder chateracterized by a variable degree of developmental delay/intellectual disability, particularly affecting speech; autism spectrum disorder or autistic features were reported in 8 individuals from this cohort.
Molecular Function
The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
