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

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.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0000-CDED-F Version Permalink: http://hdl.handle.net/21.11116/0000-0000-CDEE-E
Genre: Journal Article

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van der Werf.pdf (Publisher version), 674KB
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© 2016 Elsevier B.V.
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 Creators:
van der Werf, I. M., Author
Van Dijck, A., Author
Reyniers, E., Author
Helsmoortel, C., Author
Kumar, A. A., Author
Kalscheuer, V. M.1, Author              
de Brouwer, A. P., Author
Kleefstra, T., Author
van Bokhoven, H., Author
Mortier, G., Author
Janssens, S., Author
Vandeweyer, G., Author
Kooy, R. F., Author
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385702              

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Free keywords: Adolescent Adult Articulation Disorders/diagnosis/*genetics/physiopathology Autism Spectrum Disorder/diagnosis/*genetics/physiopathology Base Sequence Child DNA-Binding Proteins/*genetics Exome Female Gene Expression *Genes, X-Linked *Genetic Predisposition to Disease Genome-Wide Association Study Humans Intellectual Disability/diagnosis/*genetics/physiopathology Male Middle Aged *Mutation Pedigree Phenotype Sequence Analysis, DNA Severity of Illness Index
 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.

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Language(s): eng - English
 Dates: 2016-12-162017-03-20
 Publication Status: Published in print
 Pages: 7
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1016/j.gene.2016.12.013
ISSN: 1879-0038 (Electronic)0378-1119 (Print)
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Title: Gene
  Other : Gene
Source Genre: Journal
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Publ. Info: Amsterdam : Elsevier
Pages: - Volume / Issue: 605 Sequence Number: - Start / End Page: 92 - 98 Identifier: ISSN: 0378-1119
CoNE: /journals/resource/954925526821