Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.
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ABSTRACT:
SUBMITTER: Ramos LLP
PROVIDER: S-EPMC6693049 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Publications
Heterozygous loss of function of <i>NR4A2</i> is associated with intellectual deficiency, rolandic epilepsy, and language impairment.
Ramos Luiza L P LLP Monteiro Fabiola P FP Sampaio Leticia P B LPB Costa Larissa A LA Ribeiro Mara D O MDO Freitas Erika L EL Kitajima Joao P JP Kok Fernando F
Clinical case reports 20190711 8
Recognition of a de novo mutation in <i>NR4A2</i> 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 <i>NR4A2</i> as the candidate gene in this patient. ...[more]
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