Aliases: CDA07, CDLS5, HD8, HDACL1, MRXS6, RPD3, WTS
Chromosome No: X
Chromosome Band: Xq13.1
Genetic Category: Syndromic-Rare single gene variant
Associated Syndrome(s): Cornelia de Lange syndrome-5 (CDLS5)
ASD Reports: 12
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 9
Evidence score: 2
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Relevance to Autism
Mutations in the HDAC8 gene are responsible for a form of Cornelia de Lange syndrome (Cornelia de Lange syndrome-5; OMIM 300882) (Deardorff et al., 2012; Harakalova et al., 2012; Kaiser et al., 2014; Ansari et al., 2014). A comparison of the primary clinical findings in individuals with molecularly confirmed Cornelia de Lange syndrome in Kline et al., 2018 determined that 20-49% of individuals with HDAC8 mutations presented with autism spectrum disorder.
Molecular Function
The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors.
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