Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/22018
Title: Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Authors: Corbett, Mark A;Kroes, Thessa;Veneziano, Liana;Bennett, Mark F;Florian, Rahel;Schneider, Amy L;Coppola, Antonietta;Licchetta, Laura;Franceschetti, Silvana;Suppa, Antonio;Wenger, Aaron;Mei, Davide;Pendziwiat, Manuela;Kaya, Sabine;Delledonne, Massimo;Straussberg, Rachel;Xumerle, Luciano;Regan, Brigid;Crompton, Douglas;van Rootselaar, Anne-Fleur;Correll, Anthony;Catford, Rachael;Bisulli, Francesca;Chakraborty, Shreyasee;Baldassari, Sara;Tinuper, Paolo;Barton, Kirston;Carswell, Shaun;Smith, Martin;Berardelli, Alfredo;Carroll, Renee;Gardner, Alison;Friend, Kathryn L;Blatt, Ilan;Iacomino, Michele;Di Bonaventura, Carlo;Striano, Salvatore;Buratti, Julien;Keren, Boris;Nava, Caroline;Forlani, Sylvie;Rudolf, Gabrielle;Hirsch, Edouard;Leguern, Eric;Labauge, Pierre;Balestrini, Simona;Sander, Josemir W;Afawi, Zaid;Helbig, Ingo;Ishiura, Hiroyuki;Tsuji, Shoji;Sisodiya, Sanjay M;Casari, Giorgio;Sadleir, Lynette G;van Coller, Riaan;Tijssen, Marina A J;Klein, Karl Martin;van den Maagdenberg, Arn M J M;Zara, Federico;Guerrini, Renzo;Berkovic, Samuel F;Pippucci, Tommaso;Canafoglia, Laura;Bahlo, Melanie;Striano, Pasquale;Scheffer, Ingrid E;Brancati, Francesco;Depienne, Christel;Gecz, Jozef
Affiliation: Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel
Tel Aviv University Medical School, 69978, Tel Aviv, Israel
Department of Neurology, the University of Tokyo Hospital, Tokyo, Japan
Department of Paediatrics and Child Health, University of Otago, Wellington, Wellington, New Zealand
Department of Biotechnology, University of Verona, Strada le Grazie 15, 37134, Verona, Italy
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Chalfont Centre for Epilepsy, Chalfont St Peter, SL9 0RJ, UK
Department of Neurology, the University of Tokyo Hospital, Tokyo, Japan
Medical Genome Center, the University of Tokyo Hospital, Tokyo, Japan
International University of Health and Welfare, Chiba, Japan
AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France
Institut National de la Santé et de la Recherche Médicale, U1258, Illkirch, France
Université de Strasbourg, Illkirch, France
Department of Neurology, Strasbourg University Hospital, Strasbourg, France
Department of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, 00185, Rome, Italy
IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy
Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel
Tel Aviv University Medical School, 69978, Tel Aviv, Israel
Pacific Biosciences, Menlo Park, CA, USA
Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Napoli, Italy
Personal Genomics, Strada le Grazie 15, 37134, Verona, Italy
Amsterdam UMC, University of Amsterdam, Department of Neurology and Clinical Neurophysiology, Amsterdam Neuroscience, Amsterdam, The Netherlands
Laboratory of Neurogenetics, IRCCS Istituto "G. Gaslini", Genova, Italy
INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France
Department of Neurology, Federico II University, Napoli, Italy
MS Unit, Montpellier University Hospital, Montpellier, France
TIGEM - Telethon Institute of Genetics and Medicine, Naples, and San Raffaele University, Milan, Italy
University of Pretoria, Pretoria, South Africa
Departments of Human Genetics & Neurology, Leiden University Medical Centre, Leiden, The Netherlands
Department of Neurology, University of Groningen, Groningen, The Netherlands
Neuroscience and Neurogenetics Department, Meyer Children's Hospital, Florence, Italy
Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy
Division of Neurology Children's Hospital of Philadelphia, Philadelphia, PA, USA
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
IRCCS Neuromed, Pozzilli, IS, Italy
Centre National de la Recherche Scientifique, U7104, Illkirch, France
Departments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy
Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy
Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia
Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia
South Australian Health and Medical Research Institute, Adelaide, 5000, SA, Australia
Royal Children's Hospital, Murdoch Children's Research Institute and Florey Institute, Melbourne, VIC, Australia
Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, 3052, VIC, Australia
Department of Medical Biology, the University of Melbourne, Melbourne, 3010, VIC, Australia
Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia
St-Vincent's Clinical School, Faulty of Medicine, UNSW Sydney, Darlinghurst, NSW, 2010, Australia
Department of Neurology, Northern Health, Melbourne, VIC, Australia
Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany
Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France
Institute of Translational Pharmacology, National Research Council, Rome, Italy
Medical Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "G. Gaslini", Genova, Italy
Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE, London, UK
Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Goethe University, Frankfurt am Main, Frankfurt, Germany
Department of Neurology, Epilepsy Center Hessen, Philipps University, Marburg, Marburg, Germany
Issue Date: 29-Oct-2019
EDate: 2019-10-29
Citation: Nature communications 2019; 10(1): 4920
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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/22018
DOI: 10.1038/s41467-019-12671-y
ORCID: 0000-0001-9298-3072
0000-0002-9921-8450
0000-0002-3561-6804
0000-0001-5260-7187
0000-0001-9903-5550
0000-0001-6790-6251
0000-0002-7100-4581
0000-0003-4518-3958
0000-0002-8376-9098
0000-0003-4851-2796
0000-0002-0901-0905
0000-0002-2050-3911
0000-0001-5639-1969
0000-0003-2975-7309
0000-0001-5602-5686
0000-0002-0115-8980
0000-0001-6250-363X
0000-0001-5783-571X
0000-0002-6654-1665
0000-0002-7272-7079
0000-0003-4580-841X
0000-0002-5385-761X
0000-0001-5132-0774
0000-0002-6065-1476
0000-0002-2311-2174
0000-0003-3624-2354
0000-0002-7212-9554
0000-0002-7884-6861
PubMed URL: 31664034
Type: Journal Article
Appears in Collections:Journal articles

Files in This Item:
There are no files associated with this item.


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.