English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT

Released

Journal Article

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

MPS-Authors
/persons/resource/persons50369

Kalscheuer,  V. M.
Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

External Ressource
Fulltext (public)

van der Werf.pdf
(Publisher version), 674KB

Supplementary Material (public)
There is no public supplementary material available
Citation

van der Werf, I. M., Van Dijck, A., Reyniers, E., Helsmoortel, C., Kumar, A. A., Kalscheuer, V. M., et al. (2017). Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. Gene, 605, 92-98. doi:10.1016/j.gene.2016.12.013.


Cite as: http://hdl.handle.net/21.11116/0000-0000-CDED-F
Abstract
Intellectual disability (ID) affects approximately 1-2% of the general population and is characterized by impaired cognitive abilities. ID is both clinically as well as genetically heterogeneous, up to 2000 genes are estimated to be involved in the emergence of the disease with various clinical presentations. For many genes, only a few patients have been reported and causality of some genes has been questioned upon the discovery of apparent loss-of-function mutations in healthy controls. Description of additional patients strengthens the evidence for the involvement of a gene in the disease and can clarify the clinical phenotype associated with mutations in a particular gene. Here, we present two large four-generation families with a total of 11 males affected with ID caused by mutations in ZNF711, thereby expanding the total number of families with ID and a ZNF711 mutation to four. Patients with mutations in ZNF711 all present with mild to moderate ID and poor speech accompanied by additional features in some patients, including autistic features and mild facial dysmorphisms, suggesting that ZNF711 mutations cause non-syndromic ID.