ausblenden:
Schlagwörter:
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
Zusammenfassung:
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.
