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

doi:10.1038/ncomms15698

GSTDTAP > 资源环境科学

DOI	10.1038/ncomms15698
	Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
	Corbett, Mark A.1,2; Kroes, Thessa 1,2; Veneziano, Liana 3; Bennett, Mark F.4,5,6; Florian, Rahel 7; Schneider, Amy L.6; Coppola, Antonietta 8; Licchetta, Laura 9,10; Franceschetti, Silvana 11,12; Suppa, Antonio 13,14; Wenger, Aaron 15; Mei, Davide 16; Pendziwiat, Manuela 17; Kaya, Sabine 7; Delledonne, Massimo 18; Straussberg, Rachel 19,20; Xumerle, Luciano 21; Regan, Brigid 6; Crompton, Douglas 6,22; van Rootselaar, Anne-Fleur 23; Correll, Anthony 24; Catford, Rachael 24; Bisulli, Francesca 9,10; Chakraborty, Shreyasee 15; Baldassari, Sara 9; Tinuper, Paolo 9,10; Barton, Kirston 25; Carswell, Shaun 25; Smith, Martin 25,26; Berardelli, Alfredo 13,14; Carroll, Renee 1,2; Gardner, Alison 1,2; Friend, Kathryn L.24; Blatt, Ilan 27; Iacomino, Michele 28; Di Bonaventura, Carlo 13; Striano, Salvatore 29; Buratti, Julien 30; Keren, Boris 30; Nava, Caroline 31; Forlani, Sylvie 31; Rudolf, Gabrielle 32,33,34,35,36; Hirsch, Edouard 35; Leguern, Eric 30,31; Labauge, Pierre 37; Balestrini, Simona 38,39; Sander, Josemir W.38,39; Afawi, Zaid 20; Helbig, Ingo 17,40; Ishiura, Hiroyuki 41; Tsuji, Shoji 41,42,43; Sisodiya, Sanjay M.38,39; Casari, Giorgio 44,45; Sadleir, Lynette G.46; van Coller, Riaan 47; Tijssen, Marina A. J.48; Klein, Karl Martin 49,50,51,52,53,54; van den Maagdenberg, Arn M. J. M.55,56; Zara, Federico 28; Guerrini, Renzo 16; Berkovic, Samuel F.6; Pippucci, Tommaso 57; Canafoglia, Laura 11,12; Bahlo, Melanie 4,5; Striano, Pasquale 58,59; Scheffer, Ingrid E.6,60,61; Brancati, Francesco 3,62,63; Depienne, Christel 7,32,36; Gecz, Jozef 1,2,64
	2019-10-29
发表期刊	NATURE COMMUNICATIONS
ISSN	2041-1723
出版年	2019
卷号	10
文章类型	Article
语种	英语
国家	Australia; Italy; Germany; England; USA; Israel; Netherlands; France; Japan; New Zealand; South Africa; Canada
英文摘要	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.
领域	资源环境
收录类别	SCI-E
WOS记录号	WOS:000493042500010
WOS关键词	DOMINANT CORTICAL TREMOR ; EXPRESSION ANALYSIS ; PEDIGREE ; LOCUS ; LINKAGE ; GENE ; 2P11.1-Q12.2 ; REFINEMENT ; MUTATION ; BAFME
WOS类目	Multidisciplinary Sciences
WOS研究方向	Science & Technology - Other Topics
URL	查看原文
引用统计
文献类型	期刊论文
条目标识符	http://119.78.100.173/C666/handle/2XK7JSWQ/203350
专题	资源环境科学
作者单位	1.Univ Adelaide, Adelaide Med Sch, Adelaide, SA 5005, Australia; 2.Univ Adelaide, Robinson Res Inst, Adelaide, SA 5005, Australia; 3.CNR, Inst Translat Pharmacol, Rome, Italy; 4.Walter & Eliza Hall Inst Med Res, Populat Hlth & Immun Div, Parkville, Vic 3052, Australia; 5.Univ Melbourne, Dept Med Biol, Melbourne, Vic 3010, Australia; 6.Univ Melbourne, Austin Hlth, Dept Med, Epilepsy Res Ctr, Heidelberg, Vic 3084, Australia; 7.Univ Duisburg Essen, Univ Klinikum Essen, Inst Human Genet, Essen, Germany; 8.Univ Naples Federico II, Dept Neurosci Reprod & Odontostomatol Sci, Naples, Italy; 9.Ist Sci Neurol Bologna, IRCCS, Bologna, Italy; 10.Univ Bologna, Dept Biomed & Neuromotor Sci, Bologna, Italy; 11.Ist Neurol Carlo Besta, Fdn IRCCS, Neurophysiopathol, Milan, Italy; 12.ERN EpiCARE, European Reference Network Rare & Complex Epileps, London, England; 13.Sapienza Univ Rome, Dept Human Neurosci, Viale Univ 30, I-00185 Rome, Italy; 14.IRCCS Neuromed, Pozzilli, IS, Italy; 15.Pacific Biosci, Menlo Pk, CA USA; 16.Meyer Childrens Hosp, Neurosci & Neurogenet Dept, Florence, Italy; 17.Univ Kiel, Univ Med Ctr Schleswig Holstein, Dept Neuropediat, Kiel, Germany; 18.Univ Verona, Dept Biotechnol, Str Grazie 15, I-37134 Verona, Italy; 19.Schneider Childrens Med Ctr Israel, Inst Pediat Neurol, Petah Tiqwa, Israel; 20.Tel Aviv Univ, Sch Med, IL-69978 Tel Aviv, Israel; 21.Personal Genom, Str Grazie 15, I-37134 Verona, Italy; 22.Northern Hlth, Dept Neurol, Melbourne, Vic, Australia; 23.Univ Amsterdam, Amsterdam UMC, Dept Neurol & Clin Neurophysiol, Amsterdam Neurosci, Amsterdam, Netherlands; 24.SA Pathol, Genet & Mol Pathol, Adelaide, SA, Australia; 25.Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia; 26.UNSW Sydney, Faulty Med, St Vincents Clin Sch, Darlinghurst, NSW 2010, Australia; 27.Sheba Med Ctr, Dept Neurol, Tel Hashomer, Israel; 28.IRCCS Ist G Gaslini, Neurogenet Lab, Genoa, Italy; 29.Univ Naples Federico II, Dept Neurol, Naples, Italy; 30.Hop La Pitie Salpetriere, AP HP, Dept Genet, F-75013 Paris, France; 31.UPMC Univ Paris 06, Sorbonne Univ, Inst Cerveau & Moelle Epiniere, CNRS,U 1127,UMR 7225,UMR S 1127,INSERM,ICM, F-75013 Paris, France; 32.Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France; 33.INSERM, U1258, Illkirch Graffenstaden, France; 34.Univ Strasbourg, Illkirch Graffenstaden, France; 35.Strasbourg Univ Hosp, Dept Neurol, Strasbourg, France; 36.CNRS, U7104, Illkirch Graffenstaden, France; 37.Montpellier Univ Hosp, MS Unit, Montpellier, France; 38.UCL Queen Sq Inst Neurol, Dept Clin & Expt Epilepsy, London WC1N 3BG, England; 39.Chalfont Ctr Epilepsy, Gerrards Cross SL9 0RJ, England; 40.Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA; 41.Univ Tokyo Hosp, Dept Neurol, Tokyo, Japan; 42.Univ Tokyo Hosp, Med Genome Ctr, Tokyo, Japan; 43.Int Univ Hlth & Welf, Chiba, Japan; 44.TIGEM Telethon Inst Genet & Med, Naples, Italy; 45.San Raffaele Univ, Milan, Italy; 46.Univ Otago, Dept Paediat & Child Hlth, Wellington, New Zealand; 47.Univ Pretoria, Pretoria, South Africa; 48.Univ Groningen, Dept Neurol, Groningen, Netherlands; 49.Goethe Univ, Epilepsy Ctr Frankfurt Rhine Main, Dept Neurol, Frankfurt, Germany; 50.Philipps Univ, Epilepsy Ctr Hessen, Dept Neurol, Marburg, Germany; 51.Univ Calgary, Hotchkiss Brain Inst, Dept Clin Neurosci, Calgary, AB, Canada; 52.Univ Calgary, Hotchkiss Brain Inst, Dept Med Genet, Calgary, AB, Canada; 53.Univ Calgary, Hotchkiss Brain Inst, Dept Community Hlth Sci, Calgary, AB, Canada; 54.Univ Calgary, Cumming Sch Med, Alberta Childrens Hosp, Res Inst, Calgary, AB, Canada; 55.Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands; 56.Leiden Univ, Med Ctr, Dept Neurol, Leiden, Netherlands; 57.St Orsola Malpighi Univ Hosp, Med Genet Unit, Bologna, Italy; 58.IRCCS Ist G Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy; 59.Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy; 60.Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia; 61.Royal Childrens Hosp, Florey Inst, Melbourne, Vic, Australia; 62.Univ Aquila, Dept Life Hlth & Environm Sci, Med Genet, Laquila, Italy; 63.IDI IRCCS, Ist Dermopat Immacolata, Lab Mol & Cell Biol, Rome, Italy; 64.South Australian Hlth & Med Res Inst, Adelaide, SA 5000, Australia
推荐引用方式 GB/T 7714	Corbett, Mark A.,Kroes, Thessa,Veneziano, Liana,et al. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2[J]. NATURE COMMUNICATIONS,2019,10.
APA	Corbett, Mark A..,Kroes, Thessa.,Veneziano, Liana.,Bennett, Mark F..,Florian, Rahel.,...&Gecz, Jozef.(2019).Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.NATURE COMMUNICATIONS,10.
MLA	Corbett, Mark A.,et al."Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2".NATURE COMMUNICATIONS 10(2019).