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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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

Similares en LA Referencia