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

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, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne and Jozef Gecz ()
Additional contact information
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
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
Silvana Franceschetti: Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta
Antonio Suppa: Sapienza University of Rome, Viale dell’Università, 30
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
Luciano Xumerle: Personal Genomics
Brigid Regan: University of Melbourne, Austin Health
Douglas Crompton: University of Melbourne, Austin 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
Shreyasee Chakraborty: Pacific Biosciences
Sara Baldassari: IRCCS Istituto delle Scienze Neurologiche di Bologna
Paolo Tinuper: IRCCS Istituto delle Scienze Neurologiche di 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
Alfredo Berardelli: Sapienza University of Rome, Viale dell’Università, 30
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
Edouard Hirsch: Strasbourg University Hospital
Eric Leguern: AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique
Pierre Labauge: MS Unit, Montpellier University Hospital
Simona Balestrini: UCL Queen Square Institute of Neurology
Josemir W. Sander: UCL Queen Square Institute of Neurology
Zaid Afawi: Tel Aviv University Medical School
Ingo Helbig: University Medical Center Schleswig-Holstein, Christian-Albrechts University
Hiroyuki Ishiura: the University of Tokyo Hospital
Shoji Tsuji: the University of Tokyo Hospital
Sanjay M. Sisodiya: UCL Queen Square Institute of Neurology
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
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
Melanie Bahlo: Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research
Pasquale Striano: Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “G. Gaslini”
Ingrid E. Scheffer: University of Melbourne, Austin Health
Francesco Brancati: Institute of Translational Pharmacology, National Research Council
Christel Depienne: Universitätsklinikum Essen, Universität Duisburg-Essen
Jozef Gecz: University of Adelaide

Nature Communications, 2019, vol. 10, issue 1, 1-10

Abstract: 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.

Date: 2019
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DOI: 10.1038/s41467-019-12671-y

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