Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.
Luiza L P RamosFabiola P MonteiroLeticia P B SampaioLarissa A CostaMara D O RibeiroErika L FreitasJoao P KitajimaFernando KokPublished in: Clinical case reports (2019)
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.