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

Luiza L P Ramos; Fabiola P Monteiro; Leticia P B Sampaio; Larissa A Costa; Mara D O Ribeiro; Erika L Freitas; Joao P Kitajima; Fernando Kok

doi:10.1002/ccr3.2260

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.

Authors

Luiza L P Ramos¹, Fabiola P Monteiro¹, Leticia P B Sampaio², Larissa A Costa¹, Mara D O Ribeiro¹, Erika L Freitas¹, Joao P Kitajima¹, Fernando Kok^{1

2}

Affiliations

¹ Mendelics Genomic Analysis Sao Paulo Brazil.
² Department of Neurology University of Sao Paulo School of Medicine Sao Paulo Brazil.

Abstract

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