An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.

Adult Humans Ataxia / genetics Australia Cerebellar Ataxia / genetics Friedreich Ataxia / genetics Trinucleotide Repeat Expansion / genetics Fibroblast Growth Factors
ataxia bilateral vestibulopathy cerebellar ataxia repeat expansions short tandem repeats whole-genome sequencing

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
05 01 2023
Historique:
received: 12 10 2022
accepted: 19 11 2022
pubmed: 10 12 2022
medline: 11 1 2023
entrez: 9 12 2022
Statut: ppublish

Résumé

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) repeat expansion in fibroblast growth factor 14 (FGF14). Genetic analysis of 95 Australian individuals with adult-onset ataxia identified four (4.2%) with (GAA)

Identifiants

DOI: 10.1016/j.ajhg.2022.11.015 PMID: 36493768 PMC: PMC9892775
pubmed: 36493768
pii: S0002-9297(22)00506-7
doi: 10.1016/j.ajhg.2022.11.015
pmc: PMC9892775
pii:
doi:

Substances chimiques

fibroblast growth factor 14 0
Fibroblast Growth Factors 62031-54-3

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

105-119

Commentaires et corrections

Type : ErratumIn

Informations de copyright

Crown Copyright © 2022. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests The authors declare no competing interests.

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Auteurs

Haloom Rafehi (H)

Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia.

Justin Read (J)

Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.

David J Szmulewicz (DJ)

Cerebellar Ataxia Clinic, Eye and Ear Hospital, Melbourne, VIC, Australia; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.

Kayli C Davies (KC)

Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia.

Penny Snell (P)

Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

Liam G Fearnley (LG)

Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia; Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

Liam Scott (L)

Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.

Mirja Thomsen (M)

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Greta Gillies (G)

Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

Kate Pope (K)

Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.

Mark F Bennett (MF)

Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.

Jacob E Munro (JE)

Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia.

Kathie J Ngo (KJ)

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA.

Luke Chen (L)

Alfred Hospital, Department of Neurology, Melbourne, VIC, Australia.

Mathew J Wallis (MJ)

Clinical Genetics Service, Austin Health, Melbourne, VIC, Australia; Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.

Ernest G Butler (EG)

Peninsula Health, Melbourne, VIC, Australia.

Kishore R Kumar (KR)

Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia; Molecular Medicine Laboratory and Department of Neurology, Concord Repatriation General Hospital, Concord, NSW, Australia; Garvan Institute of Medical Research, Sydney, NSW, Australia.

Kathy Hc Wu (KH)

School of Medicine, University of New South Wales, Sydney, NSW, Australia; Clinical Genomics, St Vincent's Hospital, Darlinghurst, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia; School of Medicine, University of Notre Dame, Sydney, NSW, Australia.

Susan E Tomlinson (SE)

School of Medicine, University of Notre Dame, Sydney, NSW, Australia; Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW, Australia.

Stephen Tisch (S)

School of Medicine, University of New South Wales, Sydney, NSW, Australia; Department of Neurology, St Vincent's Hospital, Darlinghurst, NSW, Australia.

Abhishek Malhotra (A)

Department of Neuroscience, University Hospital Geelong, Geelong, VIC, Australia.

Matthew Lee-Archer (M)

Launceston General Hospital, Tasmanian Health Service, Launceston, TAS, Australia.

Egor Dolzhenko (E)

Illumina Inc, San Diego, CA, USA.

Michael A Eberle (MA)

Illumina Inc, San Diego, CA, USA.

Leslie J Roberts (LJ)

Department of Neurology and Neurological Research, St. Vincent's Hospital, Melbourne, VIC, Australia.

Brent L Fogel (BL)

Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA; Departments of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, CA, USA.

Norbert Brüggemann (N)

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Medical Center Schleswig-Holstein, Campus Lübeck, Germany.

Katja Lohmann (K)

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Martin B Delatycki (MB)

Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia.

Melanie Bahlo (M)

Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Parkville, VIC, Australia. Electronic address: bahlo@wehi.edu.au.

Paul J Lockhart (PJ)

Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, VIC, Australia. Electronic address: paul.lockhart@mcri.edu.au.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › An intronic GAA repeat expansion in FGF14...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › An intronic GAA repeat expansion in FGF14...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Ataxie › An intronic GAA repeat expansion in FGF14...
questionsmedicales.fr › Régions géographiques › Océanie › Australasie › Australie › An intronic GAA repeat expansion in FGF14...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Ataxie › Ataxie cérébelleuse › An intronic GAA repeat expansion in FGF14...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Maladies mitochondriales › Ataxie de Friedreich › An intronic GAA repeat expansion in FGF14...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Expansion de trinucléotide répété › An intronic GAA repeat expansion in FGF14...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Facteurs de croissance fibroblastique › An intronic GAA repeat expansion in FGF14...