Aliases: CMPX1, MRX65, MRX97, XLID97, ZNF4, ZNF5, ZNF6, Zfp711, dJ75N13.1
Chromosome No: X
Chromosome Band: Xq21.1
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 1
Annotated variants: 10
Associated CNVs: 11
Evidence score: 2
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Relevance to Autism
van der Werf et al., 2017 presented two large four-generation families with a total of 11 males affected with intellectual disability caused by mutations in the ZNF711 gene; patients with ZNF711 mutations presented with mild-to-moderate intellectual disability and poor speech accompanied by additional features in some patients, such as autistic features and mild facial dysmorphic features. Wang et al., 2022 described the clinical findings of 20 new cases with ZNF711 variants; in combination with the 11 patients originally described in van der Werf et al., 2017, the authors found that affected males with ZNF711 mutations presented with typically mild intellectual disability, and coexisting autism or autistic behavior occurred in half of the cases.
Molecular Function
Transcription regulator required for brain development. Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activate expression of genes involved in neuron development, such as KDM5C.
External Links
