Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J. Curry, Patrick S. Tarpey, Stephen P. Robertson, Isabelle Maystadt, Boris Keren, Joanne W. Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L. Tedder, Charles E. SchwartzMichael J. Friez, Bekim Sadikovic, Roger E. Stevenson*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.
Original languageEnglish
Pages (from-to)420-427
Number of pages8
JournalEuropean Journal of Human Genetics
Issue number4
Publication statusPublished - 1 Apr 2022

Cite this