Loss of Function of KCNC1 is associated with intellectual disability without seizures
- Authors
- Type
- Published Article
- Journal
- European Journal of Human Genetics
- Publisher
- Springer Science and Business Media LLC
- Publication Date
- Jul 25, 2017
- Volume
- 25
- Issue
- 5
- Pages
- 560–564
- Identifiers
- DOI: 10.1038/ejhg.2017.3
- PMID: 28145425
- PMCID: PMC5437909
- Source
- USPC - SET - SVS
- License
- Green
Abstract
p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family with intellectual disability and dysmorphic features. The three affected individuals carry a c.1015C>T (p.(Arg339*)) nonsense variant in KCNC1 gene. As previously observed in the mutant mouse carrying a disrupted KCNC1 gene, these findings reveal that individuals with a KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy.