title: Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.
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.
authors.affiliation: Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium.
authors.forename: Ilse M
authors.initials: IM
authors.lastname: van der Werf
authors.affiliation: Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium.
authors.forename: Anke
authors.initials: A
authors.lastname: Van Dijck
authors.affiliation: Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium.
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.affiliation: Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium.
authors.forename: Céline
authors.initials: C
authors.lastname: Helsmoortel
authors.affiliation: Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium.
authors.forename: Ajay Anand
authors.initials: AA
authors.lastname: Kumar
authors.affiliation: Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
authors.forename: Vera M
authors.initials: VM
authors.lastname: Kalscheuer
authors.affiliation: Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Arjan Pm
authors.initials: AP
authors.lastname: de Brouwer
authors.affiliation: Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Tjitske
authors.initials: T
authors.lastname: Kleefstra
authors.affiliation: Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Hans
authors.initials: H
authors.lastname: van Bokhoven
authors.affiliation: Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium.
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.affiliation: Center for Medical Genetics Ghent, Ghent University, Ghent University Hospital, Ghent, Belgium.
authors.forename: Sandra
authors.initials: S
authors.lastname: Janssens
authors.affiliation: Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium.
authors.forename: Geert
authors.initials: G
authors.lastname: Vandeweyer
authors.affiliation: Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium. Electronic address: Frank.Kooy@uantwerpen.be.
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
mesh_terms: D000293:Adolescent; D000328:Adult; D001184:Articulation Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D001483:Base Sequence; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D059472:Exome; D005260:Female; D015870:Gene Expression; D050172:Genes, X-Linked; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D012720:Severity of Illness Index
chemical_list: D004268:DNA-Binding Proteins; C484727:ZNF711 protein, human
keywords: MRX65; XLID; ZNF711