Inherited

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Oct 2024
Historique:
received: 16 04 2024
accepted: 01 07 2024
medline: 12 8 2024
pubmed: 12 8 2024
entrez: 12 8 2024
Statut: epublish

Résumé

Purine-rich element-binding protein alpha (PURA) regulates gene expression and is ubiquitously expressed with an enrichment in neural tissues. Pathogenic variants in We used genome sequencing to identify a pathogenic gene variant as part of a study of children ascertained for severe primary speech disorder in the absence of moderate or severe ID. The novel This is the first inherited

Identifiants

DOI: 10.1212/NXG.0000000000200181 PMID: 39131487 PMC: PMC11309559
pubmed: 39131487
doi: 10.1212/NXG.0000000000200181
pii: NXG-2023-000331
pmc: PMC11309559
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e200181

Informations de copyright

Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Déclaration de conflit d'intérêts

I.E. Scheffer has served on scientific advisory boards for BioMarin, Chiesi, Eisai, Encoded Therapeutics, GlaxoSmithKline, Knopp Biosciences, Nutricia, Rogcon, Takeda Pharmaceuticals, UCB, Xenon Pharmaceuticals, Cerecin; has received speaker honoraria from GlaxoSmithKline, UCB, BioMarin, Biocodex, Chiesi, Liva Nova, Nutricia, Zuellig Pharma, Stoke Therapeutics and Eisai; has received funding for travel from UCB, Biocodex, GlaxoSmithKline, Biomarin, Encoded Therapeutics, Stoke Therapeutics and Eisai; has served as an investigator for Anavex Life Sciences, Cerevel Therapeutics, Eisai, Encoded Therapeutics, EpiMinder Inc, Epygenyx, ES-Therapeutics, GW Pharma, Marinus, Neurocrine BioSciences, Ovid Therapeutics, Takeda Pharmaceuticals, UCB, Ultragenyx, Xenon Pharmaceuticals, Zogenix and Zynerba; and has consulted for Care Beyond Diagnosis, Epilepsy Consortium, Atheneum Partners, Ovid Therapeutics, UCB, Zynerba Pharmaceuticals, BioMarin, Encoded Therapeutics and Biohaven Pharmaceuticals; and is a Non-Executive Director of Bellberry Ltd and a Director of the Australian Academy of Health and Medical Sciences and the Australian Council of Learned Academies Limited. She may accrue future revenue on pending patent WO61/010176 (filed: 2008): Therapeutic Compound; has a patent for SCN1A testing held by Bionomics Inc and licensed to various diagnostic companies; has a patent molecular diagnostic/theranostic target for benign familial infantile epilepsy (BFIE) [PRRT2] 2011904493 and 2012900190 and PCT/AU2012/001321 (TECH ID:2012-009). The remaining authors declare no competing interests. Go to Neurology.org/NG for full disclosures.

Auteurs

Michael S Hildebrand (MS)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.
ORCID: 0000-0003-2739-0515

Ruth O Braden (RO)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.
ORCID: 0000-0001-7730-1205

Mariana L Lauretta (ML)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.

Antony Kaspi (A)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.

Richard J Leventer (RJ)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.
ORCID: 0000-0003-0362-5607

Melinda Anderson (M)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.

Himanshu Goel (H)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.
ORCID: 0000-0001-6448-6618

Melanie Bahlo (M)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.
ORCID: 0000-0001-5132-0774

Ingrid E Scheffer (IE)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.
ORCID: 0000-0002-2311-2174

David J Amor (DJ)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.

Robert Janowski (R)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.
ORCID: 0000-0002-9940-2143

Dierk Niessing (D)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.
ORCID: 0000-0002-5589-369X

Angela T Morgan (AT)

From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.
ORCID: 0000-0003-1147-7405

Classifications MeSH