NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

Clinical Genetics
J LévyAnne-Claude Tabet

Abstract

NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare, and only 1 patient with a de novo deletion encompassing only NR4A2 gene was reported so far. We report 3 additional patients with a de novo deletion encompassing NR4A2: 2 patients have deletions encompassing only NR4A2 gene and 1 patient has a deletion including NR4A2 and the first exon of GPD2. Our patients presented a neurodevelopmental disorder including language impairment, developmental delay, intellectual disability and/or autism spectrum disorder. We suggest that NR4A2 haploinsufficiency is implicated in neurodevelopmental disorder with high penetrance.

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Citations

Jan 11, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Thomas WirthEmmanuel Roze
Aug 28, 2019·NPJ Genomic Medicine·Pamela FelicianoWendy K Chung
May 6, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sakshi SinghBobby P C Koeleman
Dec 7, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hui GuoEvan E Eichler
Jun 23, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Benedikt WinterMichael Zech
Jul 3, 2021·International Journal of Molecular Sciences·Salam Salloum-AsfarSara A Abdulla

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