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

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

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 t...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Clinical Case Reports
Subjects:
intellectual deficiency
NR4A2
rolandic epilepsy
Online Access:https://doi.org/10.1002/ccr3.2260
Description
Summary: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.
ISSN:2050-0904

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