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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Author

Listed:
  • Mark A. Corbett

    (University of Adelaide)

  • Thessa Kroes

    (University of Adelaide)

  • Liana Veneziano

    (Institute of Translational Pharmacology, National Research Council)

  • Mark F. Bennett

    (Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research
    the University of Melbourne
    University of Melbourne, Austin Health)

  • Rahel Florian

    (Universitätsklinikum Essen, Universität Duisburg-Essen)

  • Amy L. Schneider

    (University of Melbourne, Austin Health)

  • Antonietta Coppola

    (Reproductive and Odontostomatological Sciences, Federico II University)

  • Laura Licchetta

    (IRCCS Istituto delle Scienze Neurologiche di Bologna
    University of Bologna)

  • Silvana Franceschetti

    (Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta
    Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE)

  • Antonio Suppa

    (Sapienza University of Rome, Viale dell’Università, 30
    IRCCS Neuromed)

  • Aaron Wenger

    (Pacific Biosciences)

  • Davide Mei

    (Meyer Children’s Hospital)

  • Manuela Pendziwiat

    (University Medical Center Schleswig-Holstein, Christian-Albrechts University)

  • Sabine Kaya

    (Universitätsklinikum Essen, Universität Duisburg-Essen)

  • Massimo Delledonne

    (University of Verona)

  • Rachel Straussberg

    (Institute of Pediatric Neurology, Schneider Children’s Medical Center of Israel
    Tel Aviv University Medical School)

  • Luciano Xumerle

    (Personal Genomics)

  • Brigid Regan

    (University of Melbourne, Austin Health)

  • Douglas Crompton

    (University of Melbourne, Austin Health
    Northern Health)

  • Anne-Fleur Rootselaar

    (Amsterdam UMC, University of Amsterdam, Department of Neurology and Clinical Neurophysiology, Amsterdam Neuroscience)

  • Anthony Correll

    (Genetics and Molecular Pathology, SA Pathology)

  • Rachael Catford

    (Genetics and Molecular Pathology, SA Pathology)

  • Francesca Bisulli

    (IRCCS Istituto delle Scienze Neurologiche di Bologna
    University of Bologna)

  • Shreyasee Chakraborty

    (Pacific Biosciences)

  • Sara Baldassari

    (IRCCS Istituto delle Scienze Neurologiche di Bologna)

  • Paolo Tinuper

    (IRCCS Istituto delle Scienze Neurologiche di Bologna
    University of Bologna)

  • Kirston Barton

    (Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research)

  • Shaun Carswell

    (Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research)

  • Martin Smith

    (Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research
    St-Vincent’s Clinical School, Faulty of Medicine, UNSW Sydney)

  • Alfredo Berardelli

    (Sapienza University of Rome, Viale dell’Università, 30
    IRCCS Neuromed)

  • Renee Carroll

    (University of Adelaide)

  • Alison Gardner

    (University of Adelaide)

  • Kathryn L. Friend

    (Genetics and Molecular Pathology, SA Pathology)

  • Ilan Blatt

    (Sheba Medical Center)

  • Michele Iacomino

    (Laboratory of Neurogenetics, IRCCS Istituto “G. Gaslini”)

  • Carlo Bonaventura

    (Sapienza University of Rome, Viale dell’Università, 30)

  • Salvatore Striano

    (Federico II University)

  • Julien Buratti

    (AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique)

  • Boris Keren

    (AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique)

  • Caroline Nava

    (INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM)

  • Sylvie Forlani

    (INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM)

  • Gabrielle Rudolf

    (Institut de Génétique et de Biologie Moléculaire et Cellulaire
    Institut National de la Santé et de la Recherche Médicale
    Université de Strasbourg
    Strasbourg University Hospital)

  • Edouard Hirsch

    (Strasbourg University Hospital)

  • Eric Leguern

    (AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique
    INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM)

  • Pierre Labauge

    (MS Unit, Montpellier University Hospital)

  • Simona Balestrini

    (UCL Queen Square Institute of Neurology
    Chalfont Centre for Epilepsy)

  • Josemir W. Sander

    (UCL Queen Square Institute of Neurology
    Chalfont Centre for Epilepsy)

  • Zaid Afawi

    (Tel Aviv University Medical School)

  • Ingo Helbig

    (University Medical Center Schleswig-Holstein, Christian-Albrechts University
    Division of Neurology Children’s Hospital of Philadelphia)

  • Hiroyuki Ishiura

    (the University of Tokyo Hospital)

  • Shoji Tsuji

    (the University of Tokyo Hospital
    the University of Tokyo Hospital
    International University of Health and Welfare)

  • Sanjay M. Sisodiya

    (UCL Queen Square Institute of Neurology
    Chalfont Centre for Epilepsy)

  • Giorgio Casari

    (TIGEM - Telethon Institute of Genetics and Medicine, Naples, and San Raffaele University)

  • Lynette G. Sadleir

    (University of Otago, Wellington)

  • Riaan Coller

    (University of Pretoria)

  • Marina A. J. Tijssen

    (University of Groningen)

  • Karl Martin Klein

    (Goethe University, Frankfurt am Main
    Philipps University, Marburg
    University of Calgary)

  • Arn M. J. M. Maagdenberg

    (Leiden University Medical Centre)

  • Federico Zara

    (Laboratory of Neurogenetics, IRCCS Istituto “G. Gaslini”)

  • Renzo Guerrini

    (Meyer Children’s Hospital)

  • Samuel F. Berkovic

    (University of Melbourne, Austin Health)

  • Tommaso Pippucci

    (Sant’Orsola-Malpighi University Hospital)

  • Laura Canafoglia

    (Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta
    Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE)

  • Melanie Bahlo

    (Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research
    the University of Melbourne)

  • Pasquale Striano

    (Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “G. Gaslini”
    University of Genoa)

  • Ingrid E. Scheffer

    (University of Melbourne, Austin Health
    Royal Children’s Hospital, Murdoch Children’s Research Institute and Florey Institute)

  • Francesco Brancati

    (Institute of Translational Pharmacology, National Research Council
    University of L’Aquila
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell’Immacolata, IDI-IRCCS)

  • Christel Depienne

    (Universitätsklinikum Essen, Universität Duisburg-Essen
    Institut de Génétique et de Biologie Moléculaire et Cellulaire
    Centre National de la Recherche Scientifique)

  • Jozef Gecz

    (University of Adelaide
    South Australian Health and Medical Research Institute)

Abstract

Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. Four independent loci have been implicated in FAME on chromosomes (chr) 2, 3, 5 and 8. Using whole genome sequencing and repeat primed PCR, we provide evidence that chr2-linked FAME (FAME2) is caused by an expansion of an ATTTC pentamer within the first intron of STARD7. The ATTTC expansions segregate in 158/158 individuals typically affected by FAME from 22 pedigrees including 16 previously reported families recruited worldwide. RNA sequencing from patient derived fibroblasts shows no accumulation of the AUUUU or AUUUC repeat sequences and STARD7 gene expression is not affected. These data, in combination with other genes bearing similar mutations that have been implicated in FAME, suggest ATTTC expansions may cause this disorder, irrespective of the genomic locus involved.

Suggested Citation

  • Mark A. Corbett & Thessa Kroes & Liana Veneziano & Mark F. Bennett & Rahel Florian & Amy L. Schneider & Antonietta Coppola & Laura Licchetta & Silvana Franceschetti & Antonio Suppa & Aaron Wenger & Da, 2019. "Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2," Nature Communications, Nature, vol. 10(1), pages 1-10, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-12671-y
    DOI: 10.1038/s41467-019-12671-y
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    Cited by:

    1. Lars Mohren & Friedrich Erdlenbruch & Elsa Leitão & Fabian Kilpert & G. Sebastian Hönes & Sabine Kaya & Christopher Schröder & Andreas Thieme & Marc Sturm & Joohyun Park & Agatha Schlüter & Montserrat, 2024. "Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions," Nature Communications, Nature, vol. 15(1), pages 1-20, December.

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