Please use this identifier to cite or link to this item:
https://ahro.austin.org.au/austinjspui/handle/1/22018| Title: | Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. | Austin 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 | Date: | 2019-10-29 | Publication information: | 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: | https://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 |
Journal: | Nature Communications | PubMed URL: | 31664034 | Type: | Journal Article |
| Appears in Collections: | Journal articles |
Show full item record
Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.