Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment

Clin Case Rep. 2019 Jul 11;7(8):1582-1584. doi: 10.1002/ccr3.2260. eCollection 2019 Aug.


Recognition of a de novo mutation in NR4A2 associated with a neurodevelopmental phenotype reinforces its role in 2q23q24 microdeletion syndrome. Using the proband WES data and the probability of loss-of-function intolerance index (pLi) set at 1.0 (highest intolerance constraint), we could target NR4A2 as the candidate gene in this patient.

Keywords: NR4A2; intellectual deficiency; rolandic epilepsy.

Publication types

  • Case Reports