Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment
Reuter M, Krumbiegel M, Schlueter G, Ekici AB, Reis A, Zweier C (2017)
Publication Type: Journal article
Publication year: 2017
Journal
Book Volume: 173
Pages Range: 2231-2234
Journal Issue: 8
DOI: 10.1002/ajmg.a.38288
Abstract
Non-recurrent deletions in 2q24.1, minimally overlapping two genes, NR4A2 and GPD2, were recently described in individuals with language impairment and behavioral and cognitive symptoms. We herewith report on a female patient with a similar phenotype of severe language and mild cognitive impairment, in whom we identified a de novo deletion covering only NR4A2. NR4A2 encodes a transcription factor highly expressed in brain regions critical for speech and language and implicated in dopaminergic neuronal development. Our findings of a de novo deletion of NR4A2 in an individual with mild intellectual disability and prominent speech and language impairment provides further evidence for NR4A2 haploinsufficiency being causative for neurodevelopmental and particularly language phenotypes.
Authors with CRIS profile
Miriam Reuter
Institute of Human Genetics
Arif Bülent Ekici
Institute of Human Genetics
André Wiesmann da Silva Reis
Lehrstuhl für Humangenetik
Christiane Zweier
Medizinische Fakultät
Additional Organisation(s)
Involved external institutions
Germany (DE)How to cite
APA:
Reuter, M., Krumbiegel, M., Schlueter, G., Ekici, A.B., Reis, A., & Zweier, C. (2017). Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment. American Journal of Medical Genetics Part A, 173(8), 2231-2234. https://doi.org/10.1002/ajmg.a.38288
MLA:
Reuter, Miriam, et al. "Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment." American Journal of Medical Genetics Part A 173.8 (2017): 2231-2234.
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