학술논문
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
Document Type
Original Paper
Author
Wang, Jiyong; Foroutan, Aidin; Richardson, Ellen; Skinner, Steven A.; Reilly, Jack; Kerkhof, Jennifer; Curry, Cynthia J.; Tarpey, Patrick S.; Robertson, Stephen P.; Maystadt, Isabelle; Keren, Boris; Dixon, Joanne W.; Skinner, Cindy; Stapleton, Rachel; Ruaud, Lyse; Gumus, Evren; Lakeman, Phillis; Alders, Mariëlle; Tedder, Matthew L.; Schwartz, Charles E.; Friez, Michael J.; Sadikovic, Bekim; Stevenson, Roger E.
Source
European Journal of Human Genetics. 30(4):420-427
Subject
Language
English
ISSN
1018-4813
1476-5438
1476-5438
Abstract
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.