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Eur J Hum Genet. 2017 May;25(5):560-564. doi: 10.1038/ejhg.2017.3. Epub 2017 Feb 1.

Loss of Function of KCNC1 is associated with intellectual disability without seizures.

Poirier K1,2,3, Viot G4, Lombardi L1,2,3, Jauny C4, Billuart P1,2,3, Bienvenu T1,2,3,5.

Author information

1
Inserm, U1016, Institut Cochin, Paris, France.
2
Cnrs, UMR8104, Paris, France.
3
Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
4
Unité de Génétique Clinique, Maternité Port-Royal, HUPC, Hôpital Cochin, Paris, France.
5
Assistance Publique-Hôpitaux de Paris, Groupe Universitaire Paris Centre, Site Cochin, Laboratoire de Biochimie et Génétique Moléculaire, Paris, France.

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.

PMID:
28145425
PMCID:
PMC5437909
DOI:
10.1038/ejhg.2017.3
[Indexed for MEDLINE]
Free PMC Article

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