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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 target NR4A2 as the candidate gene in this patient.

SUBMITTER: Ramos LLP 

PROVIDER: S-EPMC6693049 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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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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