Clinical Case Reports (Aug 2019)

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
https://doi.org/10.1002/ccr3.2260
Journal volume & issue
Vol. 7, no. 8
pp. 1582 – 1584

Abstract

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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.

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