Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 30, Issue 4, Pages 420-427Publisher
SPRINGERNATURE
DOI: 10.1038/s41431-021-01018-1
Keywords
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Funding
- NIH [HD-26202]
- Curekids New Zealand
- Wellcome Trust Sanger Institute
- Greenwood Genetic Center Foundation
- South Carolina Department of Disabilities and Special Needs
- London Health Sciences Molecular Diagnostics Development Fund
- Genome Canada Genomic Applications Partnership Program Grant
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ZNF711 is a gene on the X chromosome that is associated with X-linked intellectual disability. Clinical findings confirm this association and a specific methylation signature has been identified.
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No consistent growth aberrations, craniofacial dysmorphology, malformations or neurologic findings are associated with alterations in ZNF711. The intellectual disability is typically mild and coexisting autism occurs in half of the cases. Carrier females show no manifestations. A ZNF711-specific methylation signature has been identified which can assist in identifying new cases and in confirming the pathogenicity of variants in the gene.
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