GNAO1 encephalopathy

Marcé-Grau, Anna|||0000-0001-5762-4023; Dalton, James A. R.|||0000-0002-5279-4581; López-Pisón, Javier; García-Jiménez, María Concepción; Monge-Galindo, Lorena; Cuenca-León, Ester; Giraldo, Jesús|||0000-0001-7082-4695; Macaya Ruiz, Alfons|||0000-0001-7998-4185

GNAO1 encephalopathy

De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopathy-17). We...

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Autores:	Marcé-Grau, Anna\|\|\|0000-0001-5762-4023, Dalton, James A. R.\|\|\|0000-0002-5279-4581, López-Pisón, Javier, García-Jiménez, María Concepción, Monge-Galindo, Lorena, Cuenca-León, Ester, Giraldo, Jesús\|\|\|0000-0001-7082-4695, Macaya Ruiz, Alfons\|\|\|0000-0001-7998-4185
Tipo de recurso:	artículo
Fecha de publicación:	2016
País:	España
Institución:	Universitat Autònoma de Barcelona
Repositorio:	Dipòsit Digital de Documents de la UAB
Idioma:	inglés
OAI Identifier:	oai:ddd.uab.cat:185851
Acceso en línea:	https://ddd.uab.cat/record/185851 https://dx.doi.org/urn:doi:10.1186/s13023-016-0416-0
Access Level:	acceso abierto
Palabra clave:	Early infantile epileptic encephalopathy GNAO1 Exome sequencing Ketogenic diet

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spelling	GNAO1 encephalopathyfurther delineation of a severe neurodevelopmental syndrome affecting femalesMarcé-Grau, Anna\|\|\|0000-0001-5762-4023Dalton, James A. R.\|\|\|0000-0002-5279-4581López-Pisón, JavierGarcía-Jiménez, María ConcepciónMonge-Galindo, LorenaCuenca-León, EsterGiraldo, Jesús\|\|\|0000-0001-7082-4695Macaya Ruiz, Alfons\|\|\|0000-0001-7998-4185Early infantile epileptic encephalopathyGNAO1Exome sequencingKetogenic dietDe novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopathy-17). We report a further case of this association in a 20 month-old Spanish girl with neonatal-onset refractory seizures, progressive microcephaly, oral-lingual dyskinesia and nearly absent psychomotor development. We performed whole-exome sequencing, a computational structural analysis of the novel gene variant identified and reviewed the previously reported cases. Trio whole-exome-sequencing uncovered a de novo p.Leu199Pro GNAO1 mutation. Computational structural analysis indicates this novel variant adversely affects the stability of the G-protein heterotrimeric complex as a whole. Of note, our patient showed a sustained seizure reduction while on a ketogenic diet. With this observation, a total of twelve patients with GNAO1 encephalopathy have been reported. Oral-lingual dyskinesia and responsiveness of seizures to ketogenic diet are novel features. The distorted sex ratio (12/12 females) of the condition remains unexplained; a differential gender effect of the disruption of G-protein- mediated signal transduction on the developing brain can be hypothesized. The online version of this article (doi:10.1186/s13023-016-0416-0) contains supplementary material, which is available to authorized users. 22016-01-0120162016-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/185851https://dx.doi.org/urn:doi:10.1186/s13023-016-0416-0reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengMinisterio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI12/01005Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 SAF2014-58396-Ropen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:1858512026-06-06T12:50:31Z
dc.title.none.fl_str_mv	GNAO1 encephalopathy further delineation of a severe neurodevelopmental syndrome affecting females
title	GNAO1 encephalopathy
spellingShingle	GNAO1 encephalopathy Marcé-Grau, Anna\|\|\|0000-0001-5762-4023 Early infantile epileptic encephalopathy GNAO1 Exome sequencing Ketogenic diet
title_short	GNAO1 encephalopathy
title_full	GNAO1 encephalopathy
title_fullStr	GNAO1 encephalopathy
title_full_unstemmed	GNAO1 encephalopathy
title_sort	GNAO1 encephalopathy
dc.creator.none.fl_str_mv	Marcé-Grau, Anna\|\|\|0000-0001-5762-4023 Dalton, James A. R.\|\|\|0000-0002-5279-4581 López-Pisón, Javier García-Jiménez, María Concepción Monge-Galindo, Lorena Cuenca-León, Ester Giraldo, Jesús\|\|\|0000-0001-7082-4695 Macaya Ruiz, Alfons\|\|\|0000-0001-7998-4185
author	Marcé-Grau, Anna\|\|\|0000-0001-5762-4023
author_facet	Marcé-Grau, Anna\|\|\|0000-0001-5762-4023 Dalton, James A. R.\|\|\|0000-0002-5279-4581 López-Pisón, Javier García-Jiménez, María Concepción Monge-Galindo, Lorena Cuenca-León, Ester Giraldo, Jesús\|\|\|0000-0001-7082-4695 Macaya Ruiz, Alfons\|\|\|0000-0001-7998-4185
author_role	author
author2	Dalton, James A. R.\|\|\|0000-0002-5279-4581 López-Pisón, Javier García-Jiménez, María Concepción Monge-Galindo, Lorena Cuenca-León, Ester Giraldo, Jesús\|\|\|0000-0001-7082-4695 Macaya Ruiz, Alfons\|\|\|0000-0001-7998-4185
author2_role	author author author author author author author
dc.subject.none.fl_str_mv	Early infantile epileptic encephalopathy GNAO1 Exome sequencing Ketogenic diet
topic	Early infantile epileptic encephalopathy GNAO1 Exome sequencing Ketogenic diet
description	De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopathy-17). We report a further case of this association in a 20 month-old Spanish girl with neonatal-onset refractory seizures, progressive microcephaly, oral-lingual dyskinesia and nearly absent psychomotor development. We performed whole-exome sequencing, a computational structural analysis of the novel gene variant identified and reviewed the previously reported cases. Trio whole-exome-sequencing uncovered a de novo p.Leu199Pro GNAO1 mutation. Computational structural analysis indicates this novel variant adversely affects the stability of the G-protein heterotrimeric complex as a whole. Of note, our patient showed a sustained seizure reduction while on a ketogenic diet. With this observation, a total of twelve patients with GNAO1 encephalopathy have been reported. Oral-lingual dyskinesia and responsiveness of seizures to ketogenic diet are novel features. The distorted sex ratio (12/12 females) of the condition remains unexplained; a differential gender effect of the disruption of G-protein- mediated signal transduction on the developing brain can be hypothesized. The online version of this article (doi:10.1186/s13023-016-0416-0) contains supplementary material, which is available to authorized users.
publishDate	2016
dc.date.none.fl_str_mv	2 2016-01-01 2016 2016-01-01
dc.type.none.fl_str_mv	Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	https://ddd.uab.cat/record/185851 https://dx.doi.org/urn:doi:10.1186/s13023-016-0416-0
url	https://ddd.uab.cat/record/185851 https://dx.doi.org/urn:doi:10.1186/s13023-016-0416-0
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
dc.relation.none.fl_str_mv	Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 PI12/01005 Ministerio de Economía y Competitividad https://doi.org/10.13039/501100003329 SAF2014-58396-R
dc.rights.none.fl_str_mv	open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv	info:eu-repo/semantics/openAccess
rights_invalid_str_mv	open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv	openAccess
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dc.source.none.fl_str_mv	reponame:Dipòsit Digital de Documents de la UAB instname:Universitat Autònoma de Barcelona
instname_str	Universitat Autònoma de Barcelona
reponame_str	Dipòsit Digital de Documents de la UAB
collection	Dipòsit Digital de Documents de la UAB
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GNAO1 encephalopathy

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