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Auteur John R. GILBERT |
Documents disponibles écrits par cet auteur (1)
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Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2 / Holly N. CUKIER in Autism Research, 13-4 (April 2020)
[article]
Titre : Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2 Type de document : Texte imprimé et/ou numérique Auteurs : Holly N. CUKIER, Auteur ; Anthony J. GRISWOLD, Auteur ; Natalia K. HOFMANN, Auteur ; Lissette GOMEZ, Auteur ; Patrice L. WHITEHEAD, Auteur ; Ruth K. ABRAMSON, Auteur ; John R. GILBERT, Auteur ; Michael L. CUCCARO, Auteur ; Derek M. DYKXHOORN, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur Article en page(s) : p.523-531 Langues : Anglais (eng) Mots-clés : nuclear receptor subfamily 3 group C member 2 (NR3C2) hypothalamic-pituitary-adrenal (HPA) axis mineralocorticoid receptor (MR) whole exome sequencing Index. décimale : PER Périodiques Résumé : Whole exome sequencing and copy-number variant analysis was performed on a family with three brothers diagnosed with autism. Each of the siblings shares an alteration in the nuclear receptor subfamily 3 group C member 2 (NR3C2) gene that is predicted to result in a stop-gain mutation (p.Q919X) in the mineralocorticoid receptor (MR) protein. This variant was maternally inherited and provides further evidence for a connection between the NR3C2 and autism. Interestingly, the NR3C2 gene encodes the MR protein, a steroid hormone-regulated transcription factor that acts in the hypothalamic-pituitary-adrenal axis and has been connected to stress and anxiety, both of which are features often seen in individuals with autism. Autism Res 2020, 13: 523-531. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Given the complexity of the genetics underlying autism, each gene contributes to risk in a relatively small number of individuals, typically less than 1% of all autism cases. Whole exome sequencing of three brothers with autism identified a rare variant in the nuclear receptor subfamily 3 group C member 2 gene that is predicted to strongly interfere with its normal function. This gene encodes the mineralocorticoid receptor protein, which plays a role in how the body responds to stress and anxiety, features that are often elevated in people diagnosed with autism. This study adds further support to the relevance of this gene as a risk factor for autism. En ligne : http://dx.doi.org/10.1002/aur.2269 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421
in Autism Research > 13-4 (April 2020) . - p.523-531[article] Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2 [Texte imprimé et/ou numérique] / Holly N. CUKIER, Auteur ; Anthony J. GRISWOLD, Auteur ; Natalia K. HOFMANN, Auteur ; Lissette GOMEZ, Auteur ; Patrice L. WHITEHEAD, Auteur ; Ruth K. ABRAMSON, Auteur ; John R. GILBERT, Auteur ; Michael L. CUCCARO, Auteur ; Derek M. DYKXHOORN, Auteur ; Margaret A. O. PERICAK-VANCE, Auteur . - p.523-531.
Langues : Anglais (eng)
in Autism Research > 13-4 (April 2020) . - p.523-531
Mots-clés : nuclear receptor subfamily 3 group C member 2 (NR3C2) hypothalamic-pituitary-adrenal (HPA) axis mineralocorticoid receptor (MR) whole exome sequencing Index. décimale : PER Périodiques Résumé : Whole exome sequencing and copy-number variant analysis was performed on a family with three brothers diagnosed with autism. Each of the siblings shares an alteration in the nuclear receptor subfamily 3 group C member 2 (NR3C2) gene that is predicted to result in a stop-gain mutation (p.Q919X) in the mineralocorticoid receptor (MR) protein. This variant was maternally inherited and provides further evidence for a connection between the NR3C2 and autism. Interestingly, the NR3C2 gene encodes the MR protein, a steroid hormone-regulated transcription factor that acts in the hypothalamic-pituitary-adrenal axis and has been connected to stress and anxiety, both of which are features often seen in individuals with autism. Autism Res 2020, 13: 523-531. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Given the complexity of the genetics underlying autism, each gene contributes to risk in a relatively small number of individuals, typically less than 1% of all autism cases. Whole exome sequencing of three brothers with autism identified a rare variant in the nuclear receptor subfamily 3 group C member 2 gene that is predicted to strongly interfere with its normal function. This gene encodes the mineralocorticoid receptor protein, which plays a role in how the body responds to stress and anxiety, features that are often elevated in people diagnosed with autism. This study adds further support to the relevance of this gene as a risk factor for autism. En ligne : http://dx.doi.org/10.1002/aur.2269 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421