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 Schwartz; Michael J Friez; Bekim Sadikovic; Roger E Stevenson

doi:10.1038/s41431-021-01018-1

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

Journal article

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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, …

European journal of human genetics, Vol.30(4), pp.420-427

01/04/2022

DOI: https://doi.org/10.1038/s41431-021-01018-1

Handle:

https://hdl.handle.net/10523/20693

Abstract

Autistic Disorder - genetics

DNA Methylation

DNA-Binding Proteins - genetics

Genes, X-Linked

gene regulation

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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Record Identifier: 9926495542501891
Title: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
Creators: 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 Schwartz
Michael J Friez
Bekim Sadikovic
Roger E Stevenson
Publication Details: European journal of human genetics, Vol.30(4), pp.420-427
Academic Unit: Paediatrics and Child Health (DSM)
Grant note: Funding for this research was provided, in part, by NIH grant HD-26202 to CES, Curekids New Zealand to SPR, the Wellcome Trust Sanger Institute, the Greenwood Genetic Center Foundation, the South Carolina Department of Disabilities and Special Needs, and the London Health Sciences Molecular Diagnostics Development Fund and Genome Canada Genomic Applications Partnership Program Grant awarded to BS (Beyond Genomics: Assessing the Improvement in Diagnosis of Rare Diseases using Clinical Epigenomics in Canada, EpiSign-CAN).
Date published ; e-published: 01/04/2022
Comment: The published version is not available in full-text in OUR Archive. Where available, a link to the published version is provided (check the DOI and/or the Files and links section). The full-text item may be open access on the publisher's website. An earlier version of the work (such as authors' accepted manuscript following peer-review or unreviewed preprint/author's original version) may be available in the Files and links section of this record. Alternatively, readers may have subscription access to the full-text from the publisher.
Language: English
Resource Type ; Subtype: Journal article