Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment

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 NR4...

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Autores principales: Ramos, Luiza L. P., Monteiro, Fabiola P., Sampaio, Leticia P. B., Costa, Larissa A., Ribeiro, Mara D. O., Freitas, Erika L., Kitajima, Joao P., Kok, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693049/
https://www.ncbi.nlm.nih.gov/pubmed/31428396
http://dx.doi.org/10.1002/ccr3.2260
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author Ramos, Luiza L. P.
Monteiro, Fabiola P.
Sampaio, Leticia P. B.
Costa, Larissa A.
Ribeiro, Mara D. O.
Freitas, Erika L.
Kitajima, Joao P.
Kok, Fernando
author_facet Ramos, Luiza L. P.
Monteiro, Fabiola P.
Sampaio, Leticia P. B.
Costa, Larissa A.
Ribeiro, Mara D. O.
Freitas, Erika L.
Kitajima, Joao P.
Kok, Fernando
author_sort Ramos, Luiza L. P.
collection PubMed
description 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.
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spelling pubmed-66930492019-08-19 Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment Ramos, Luiza L. P. Monteiro, Fabiola P. Sampaio, Leticia P. B. Costa, Larissa A. Ribeiro, Mara D. O. Freitas, Erika L. Kitajima, Joao P. Kok, Fernando Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-07-11 /pmc/articles/PMC6693049/ /pubmed/31428396 http://dx.doi.org/10.1002/ccr3.2260 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Ramos, Luiza L. P.
Monteiro, Fabiola P.
Sampaio, Leticia P. B.
Costa, Larissa A.
Ribeiro, Mara D. O.
Freitas, Erika L.
Kitajima, Joao P.
Kok, Fernando
Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
title Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
title_full Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
title_fullStr Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
title_full_unstemmed Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
title_short Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
title_sort heterozygous loss of function of nr4a2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693049/
https://www.ncbi.nlm.nih.gov/pubmed/31428396
http://dx.doi.org/10.1002/ccr3.2260
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