NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder. Issue 2 (10th July 2018)

• Record Type: Journal Article
• Authors: Lévy, J.; Grotto, S.; Mignot, C.; Maruani, A.; Delahaye‐Duriez, A.; Benzacken, B.; Keren, B.; Haye, D.; Xavier, J.; Heulin, M.; Charles, E.; Verloes, A.; Dupont, C.; Pipiras, E.; Tabet, A.‐C.
• Is Part Of: Clinical genetics. Volume 94:Issue 2(2018)
• Page Start: 264
• Page End: 268
• Publication Date: 2018-07-10
• Subjects: autism -- GPD2 -- intellectual disability -- NR4A2 -- speech and language development; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13383
• Languages: English
• ISSNs: 0009-9163

Abstract

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. Abstract :