Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Verdura, Edgard; Rodriguez-Palmero Seuma, Agusti; Vélez Santamaria, Valentina; Planas Serra, Laura; de la Calle, Irene; Raspall Chaure, Miquel

dc.contributor	Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author	Verdura, Edgard
dc.contributor.author	Rodriguez-Palmero Seuma, Agusti
dc.contributor.author	Vélez Santamaria, Valentina
dc.contributor.author	Planas Serra, Laura
dc.contributor.author	de la Calle, Irene
dc.contributor.author	Raspall Chaure, Miquel
dc.date.accessioned	2022-06-13T13:29:41Z
dc.date.available	2022-06-13T13:29:41Z
dc.date.issued	2021-09
dc.identifier.citation	Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, Planas-Serra L, de La Calle I, Raspall-Chaure M, et al. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain. 2021 Sep;144(9):2659–69.
dc.identifier.issn	1460-2156
dc.identifier.uri	https://hdl.handle.net/11351/7675
dc.description	Leucodistròfia hipomielinizant; Errors innats del metabolisme; Fosfoinositol
dc.description.sponsorship	We thank the CERCA Program/Generalitat de Catalunya for institutional support. This study was supported by grants from the Hesperia Foundation, the Asociación Española contra las Leucodistrofias (ALE-ELA España), the Autonomous Government of Catalonia (SGR 2017SGR1206 and PERIS program URD-Cat SLT002/16/00174) and the Center for Biomedical Research on Rare Diseases (CIBERER) (ACCI19-759 to A.P.). This study was also funded by Fundació La Marató de TV3 (595/C/2020) as well as Instituto de Salud Carlos III (FIS PI20/00758 to C.C.) (co-funded by European Regional Development Fund. ERDF, a way to build Europe). This study was also funded by the Instituto de Salud Carlos III (Rio Hortega, CM18/00145 to V.V.; PFIS, FI18/00141 to L.P.; and Sara Borrell, CD19/00221 to E.V.), co-funded by European Social Fund. ESF investing in your future; the Ministerio de Ciencia e Innovación y Universidades (Juan de la Cierva, FJCI-2016-28811 to E.V.), and the Center for Biomedical Research on Rare Diseases (CIBERER to M.R.). Sequencing and analysis of Patient 5 were performed by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and were funded by the National Human Genome Research Institute, the National Eye Institute, the National Heart, Lung and Blood Institute grants UM1 HG008900 and R01 HG009141 and the Chan Zuckerberg Initiative to the Rare Genomes Project. This work was in part supported by the association ‘Connaître les Syndromes Cérébelleux’ (CSC). This research received funding specifically appointed to the Department of Medical Sciences from the Italian Ministry for Education, University and Research (Ministero dell’istruzione, dell’università e della ricerca-MIUR) under the programme ‘Dipartimenti di Eccellenza 2018-2022’ Project code D15D18000410001. Whole-exome sequencing was performed as part of the Autism Sequencing Consortium and was supported by the NIMH (MH111661). D.R.A. and A.P. are members of the Undiagnosed Disease Network International (UDNI).
dc.language.iso	eng
dc.publisher	Oxford University Press
dc.relation.ispartofseries	Brain;144(9)
dc.rights	Attribution-NonCommercial 4.0 International
dc.rights.uri	http://creativecommons.org/licenses/by-nc/4.0/
dc.source	Scientia
dc.subject	Pediatria
dc.subject	Sistema nerviós - Malalties - Aspectes genètics
dc.subject	Mielina - Malalties - Aspectes genètics
dc.subject.mesh	Neurodevelopmental Disorders
dc.subject.mesh	/genetics
dc.subject.mesh	Pediatrics
dc.subject.mesh	Hereditary Central Nervous System Demyelinating Diseases
dc.title	Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
dc.type	info:eu-repo/semantics/article
dc.identifier.doi	10.1093/brain/awab124
dc.subject.decs	trastornos del desarrollo neurológico
dc.subject.decs	/genética
dc.subject.decs	pediatría
dc.subject.decs	enfermedades desmielinizantes hereditarias del sistema nervioso central
dc.relation.publishversion	https://doi.org/10.1093/brain/awab124
dc.type.version	info:eu-repo/semantics/publishedVersion
dc.audience	Professionals
dc.contributor.organismes	Institut Català de la Salut
dc.contributor.authoraffiliation	[Verdura E, Planas-Serra L] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. [Rodríguez-Palmero A] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Catalonia, Spain. [Vélez-Santamaria V] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, Universitat de Barcelona, L’Hospitalet de Llobregat, Barcelona, Spain. [de la Calle I] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. [Raspall-Chaure M] Grup de Recerca en Neurologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.identifier.pmid	34415322
dc.identifier.wos	000733722200027
dc.rights.accessrights	info:eu-repo/semantics/openAccess