H4C11H4 clustered histone 11
Autism Reports / Total Reports
2 / 4Rare Variants / Common Variants
4 / 0Aliases
-Associated Syndromes
-Chromosome Band
6p22.1Associated Disorders
-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.
External Links
SFARI Genomic Platforms
Reports related to H4C11 (4 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) | Yes | - |
| 2 | Support | Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks | Ruzzo EK , et al. (2019) | Yes | - |
| 3 | Support | - | Tessadori F et al. (2020) | No | - |
| 4 | Recent Recommendation | - | Tessadori F et al. (2022) | No | - |
Rare Variants (4)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.121C>T | p.Arg41Cys | missense_variant | De novo | - | - | 35202563 | Tessadori F et al. (2022) | |
| c.296A>G | p.Tyr99Cys | missense_variant | De novo | - | Simplex | 28263302 | C Yuen RK et al. (2017) | |
| c.274A>G | p.Lys92Glu | missense_variant | De novo | - | Simplex | 31804630 | Tessadori F et al. (2020) | |
| c.286dup | p.Arg96ProfsTer16 | frameshift_variant | Familial | Maternal | Multiplex | 31398340 | Ruzzo EK , et al. (2019) |
Common Variants
No common variants reported.
SFARI Gene score
Syndromic
Score Delta: Score remained at S
criteria met
See SFARI Gene'scoring criteriaThe syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."