Relevance to Autism

A de novo missense variant in the H4C11 gene was identified in an ASD proband from the MSSNG cohort (Yuen et al., 2017), while an inherited frameshift variant in this gene was identified in an ASD proband from the iHART cohort (Ruzzo et al., 2019). De novo missense variants in this gene have also been identified in individuals presenting with developmental delay, intellectual disability, dysmorphic features, and poor overall growth (Tessadori et al., 2020; Tessadori et al., 2022); the patient described in Tessadori et al., 2020 was also diagnosed with pervasive developmental disorder.

Molecular Function

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3.

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