Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Scala, Marcello|||0000-0003-2194-7239; Nishikawa, Masashi; Ito, Hidenori; Tabata, Hidenori; Khan, Tayyaba; Accogli, Andrea|||0000-0001-8724-6721; Davids, Laura; Ruiz, Anna|||0000-0001-7314-5962; Chiurazzi, Pietro|||0000-0001-5104-1521; Cericola, Gabriella; Schulte, Björn; Monaghan, Kristin G; Begtrup, Amber; Torella, Annalaura; Pinelli, Michele; Denommé-Pichon, Anne Sophie|||0000-0002-8986-8222; Vitobello, Antonio|||0000-0003-3717-8374; Racine, Caroline; Mancardi, Maria Margherita; Kiss, Courtney; Guerin, Andrea; Wu, Wendy; Gabau, Elisabeth|||0000-0001-8120-7393; Mak, Bryan C; Martinez-Agosto, Julian A; Gorin, Michael B; Duz, Bugrahan; Bayram, Yavuz; Carvalho, Claudia M B; Vengoechea, Jaime E; Chitayat, David; Tan, Tiong Yang|||0000-0001-8455-7778; Callewaert, Bert; Kruse, Bernd; Bird, Lynne M; Faivre, Laurence; Zollino, Marcella; Biskup, Saskia; Striano, Pasquale|||0000-0002-6065-1476; Nigro, Vincenzo; Severino, Mariasavina|||0000-0003-4730-5322; Capra, Valeria|||0000-0002-3097-0388; Costain, Gregory|||0000-0003-0099-9945; Nagata, Koh-ichi|||0000-0002-6827-8434

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated par...

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Autores:	Scala, Marcello\|\|\|0000-0003-2194-7239, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea\|\|\|0000-0001-8724-6721, Davids, Laura, Ruiz, Anna\|\|\|0000-0001-7314-5962, Chiurazzi, Pietro\|\|\|0000-0001-5104-1521, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie\|\|\|0000-0002-8986-8222, Vitobello, Antonio\|\|\|0000-0003-3717-8374, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau, Elisabeth\|\|\|0000-0001-8120-7393, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia M B, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang\|\|\|0000-0001-8455-7778, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Striano, Pasquale\|\|\|0000-0002-6065-1476, Nigro, Vincenzo, Severino, Mariasavina\|\|\|0000-0003-4730-5322, Capra, Valeria\|\|\|0000-0002-3097-0388, Costain, Gregory\|\|\|0000-0003-0099-9945, Nagata, Koh-ichi\|\|\|0000-0002-6827-8434
Tipo de recurso:	artículo
Fecha de publicación:	2022
País:	España
Institución:	Universitat Autònoma de Barcelona
Repositorio:	Dipòsit Digital de Documents de la UAB
Idioma:	inglés
OAI Identifier:	oai:ddd.uab.cat:265791
Acceso en línea:	https://ddd.uab.cat/record/265791 https://dx.doi.org/urn:doi:10.1093/brain/awac106
Access Level:	acceso abierto
Palabra clave:	RAC3 Small GTPase Brain development Axon guidance Neuronal migration

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repository_id_str
spelling	Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypesScala, Marcello\|\|\|0000-0003-2194-7239Nishikawa, MasashiIto, HidenoriTabata, HidenoriKhan, TayyabaAccogli, Andrea\|\|\|0000-0001-8724-6721Davids, LauraRuiz, Anna\|\|\|0000-0001-7314-5962Chiurazzi, Pietro\|\|\|0000-0001-5104-1521Cericola, GabriellaSchulte, BjörnMonaghan, Kristin GBegtrup, AmberTorella, AnnalauraPinelli, MicheleDenommé-Pichon, Anne Sophie\|\|\|0000-0002-8986-8222Vitobello, Antonio\|\|\|0000-0003-3717-8374Racine, CarolineMancardi, Maria MargheritaKiss, CourtneyGuerin, AndreaWu, WendyGabau, Elisabeth\|\|\|0000-0001-8120-7393Mak, Bryan CMartinez-Agosto, Julian AGorin, Michael BDuz, BugrahanBayram, YavuzCarvalho, Claudia M BVengoechea, Jaime EChitayat, DavidTan, Tiong Yang\|\|\|0000-0001-8455-7778Callewaert, BertKruse, BerndBird, Lynne MFaivre, LaurenceZollino, MarcellaBiskup, SaskiaStriano, Pasquale\|\|\|0000-0002-6065-1476Nigro, VincenzoSeverino, Mariasavina\|\|\|0000-0003-4730-5322Capra, Valeria\|\|\|0000-0002-3097-0388Costain, Gregory\|\|\|0000-0003-0099-9945Nagata, Koh-ichi\|\|\|0000-0002-6827-8434RAC3Small GTPaseBrain developmentAxon guidanceNeuronal migrationVariants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated participants presenting with global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures and musculoskeletal abnormalities. MRI of brain revealed a complex pattern of variable brain malformations, including callosal abnormalities, white matter thinning, grey matter heterotopia, polymicrogyria/dysgyria, brainstem anomalies and cerebellar dysplasia. These patients harboured eight distinct de novo RAC3 variants, including six novel variants (NM_005052.3): c.34GUniversitat Autònoma de Barcelona 22022-01-0120222022-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/265791https://dx.doi.org/urn:doi:10.1093/brain/awac106reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen 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:2657912026-06-06T12:50:31Z
dc.title.none.fl_str_mv	Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
title	Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
spellingShingle	Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes Scala, Marcello\|\|\|0000-0003-2194-7239 RAC3 Small GTPase Brain development Axon guidance Neuronal migration
title_short	Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
title_full	Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
title_fullStr	Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
title_full_unstemmed	Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
title_sort	Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
dc.creator.none.fl_str_mv	Scala, Marcello\|\|\|0000-0003-2194-7239 Nishikawa, Masashi Ito, Hidenori Tabata, Hidenori Khan, Tayyaba Accogli, Andrea\|\|\|0000-0001-8724-6721 Davids, Laura Ruiz, Anna\|\|\|0000-0001-7314-5962 Chiurazzi, Pietro\|\|\|0000-0001-5104-1521 Cericola, Gabriella Schulte, Björn Monaghan, Kristin G Begtrup, Amber Torella, Annalaura Pinelli, Michele Denommé-Pichon, Anne Sophie\|\|\|0000-0002-8986-8222 Vitobello, Antonio\|\|\|0000-0003-3717-8374 Racine, Caroline Mancardi, Maria Margherita Kiss, Courtney Guerin, Andrea Wu, Wendy Gabau, Elisabeth\|\|\|0000-0001-8120-7393 Mak, Bryan C Martinez-Agosto, Julian A Gorin, Michael B Duz, Bugrahan Bayram, Yavuz Carvalho, Claudia M B Vengoechea, Jaime E Chitayat, David Tan, Tiong Yang\|\|\|0000-0001-8455-7778 Callewaert, Bert Kruse, Bernd Bird, Lynne M Faivre, Laurence Zollino, Marcella Biskup, Saskia Striano, Pasquale\|\|\|0000-0002-6065-1476 Nigro, Vincenzo Severino, Mariasavina\|\|\|0000-0003-4730-5322 Capra, Valeria\|\|\|0000-0002-3097-0388 Costain, Gregory\|\|\|0000-0003-0099-9945 Nagata, Koh-ichi\|\|\|0000-0002-6827-8434
author	Scala, Marcello\|\|\|0000-0003-2194-7239
author_facet	Scala, Marcello\|\|\|0000-0003-2194-7239 Nishikawa, Masashi Ito, Hidenori Tabata, Hidenori Khan, Tayyaba Accogli, Andrea\|\|\|0000-0001-8724-6721 Davids, Laura Ruiz, Anna\|\|\|0000-0001-7314-5962 Chiurazzi, Pietro\|\|\|0000-0001-5104-1521 Cericola, Gabriella Schulte, Björn Monaghan, Kristin G Begtrup, Amber Torella, Annalaura Pinelli, Michele Denommé-Pichon, Anne Sophie\|\|\|0000-0002-8986-8222 Vitobello, Antonio\|\|\|0000-0003-3717-8374 Racine, Caroline Mancardi, Maria Margherita Kiss, Courtney Guerin, Andrea Wu, Wendy Gabau, Elisabeth\|\|\|0000-0001-8120-7393 Mak, Bryan C Martinez-Agosto, Julian A Gorin, Michael B Duz, Bugrahan Bayram, Yavuz Carvalho, Claudia M B Vengoechea, Jaime E Chitayat, David Tan, Tiong Yang\|\|\|0000-0001-8455-7778 Callewaert, Bert Kruse, Bernd Bird, Lynne M Faivre, Laurence Zollino, Marcella Biskup, Saskia Striano, Pasquale\|\|\|0000-0002-6065-1476 Nigro, Vincenzo Severino, Mariasavina\|\|\|0000-0003-4730-5322 Capra, Valeria\|\|\|0000-0002-3097-0388 Costain, Gregory\|\|\|0000-0003-0099-9945 Nagata, Koh-ichi\|\|\|0000-0002-6827-8434
author_role	author
author2	Nishikawa, Masashi Ito, Hidenori Tabata, Hidenori Khan, Tayyaba Accogli, Andrea\|\|\|0000-0001-8724-6721 Davids, Laura Ruiz, Anna\|\|\|0000-0001-7314-5962 Chiurazzi, Pietro\|\|\|0000-0001-5104-1521 Cericola, Gabriella Schulte, Björn Monaghan, Kristin G Begtrup, Amber Torella, Annalaura Pinelli, Michele Denommé-Pichon, Anne Sophie\|\|\|0000-0002-8986-8222 Vitobello, Antonio\|\|\|0000-0003-3717-8374 Racine, Caroline Mancardi, Maria Margherita Kiss, Courtney Guerin, Andrea Wu, Wendy Gabau, Elisabeth\|\|\|0000-0001-8120-7393 Mak, Bryan C Martinez-Agosto, Julian A Gorin, Michael B Duz, Bugrahan Bayram, Yavuz Carvalho, Claudia M B Vengoechea, Jaime E Chitayat, David Tan, Tiong Yang\|\|\|0000-0001-8455-7778 Callewaert, Bert Kruse, Bernd Bird, Lynne M Faivre, Laurence Zollino, Marcella Biskup, Saskia Striano, Pasquale\|\|\|0000-0002-6065-1476 Nigro, Vincenzo Severino, Mariasavina\|\|\|0000-0003-4730-5322 Capra, Valeria\|\|\|0000-0002-3097-0388 Costain, Gregory\|\|\|0000-0003-0099-9945 Nagata, Koh-ichi\|\|\|0000-0002-6827-8434
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv	RAC3 Small GTPase Brain development Axon guidance Neuronal migration
topic	RAC3 Small GTPase Brain development Axon guidance Neuronal migration
description	Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorphism. We investigated a cohort of 10 unrelated participants presenting with global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures and musculoskeletal abnormalities. MRI of brain revealed a complex pattern of variable brain malformations, including callosal abnormalities, white matter thinning, grey matter heterotopia, polymicrogyria/dysgyria, brainstem anomalies and cerebellar dysplasia. These patients harboured eight distinct de novo RAC3 variants, including six novel variants (NM_005052.3): c.34G
publishDate	2022
dc.date.none.fl_str_mv	2 2022-01-01 2022 2022-01-01
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/265791 https://dx.doi.org/urn:doi:10.1093/brain/awac106
url	https://ddd.uab.cat/record/265791 https://dx.doi.org/urn:doi:10.1093/brain/awac106
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
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
dc.format.none.fl_str_mv	application/pdf
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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Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

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