Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
29 10 2019
29 10 2019
Historique:
received:
19
03
2019
accepted:
23
09
2019
entrez:
31
10
2019
pubmed:
31
10
2019
medline:
26
2
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 31664034
doi: 10.1038/s41467-019-12671-y
pii: 10.1038/s41467-019-12671-y
pmc: PMC6820779
doi:
Substances chimiques
Carrier Proteins
0
STARD7 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
4920Références
Nat Protoc. 2016 Sep;11(9):1650-67
pubmed: 27560171
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Neurology. 2010 Jun 15;74(24):2000-3
pubmed: 20548044
Epilepsia. 2004 Feb;45(2):190-2
pubmed: 14738428
Epilepsia. 2005 Dec;46(12):1993-5
pubmed: 16393167
Epilepsia. 2009 May;50(5):1284-8
pubmed: 19222544
Int J Mol Sci. 2013 Mar 18;14(3):6170-86
pubmed: 23507753
Eur J Hum Genet. 2013 Feb;21(2):225-8
pubmed: 22713812
Neurology. 2002 Mar 26;58(6):941-4
pubmed: 11914412
Nat Commun. 2019 Oct 29;10(1):4919
pubmed: 31664039
J Med Genet. 2019 Apr;56(4):265-270
pubmed: 30194086
Arch Neurol. 2012 Apr;69(4):474-81
pubmed: 22491192
Genome Res. 2017 Nov;27(11):1895-1903
pubmed: 28887402
Brain. 2013 Apr;136(Pt 4):1155-60
pubmed: 23518707
EMBO J. 2018 Feb 15;37(4):
pubmed: 29301859
Epilepsia. 2011 Jul;52(7):1245-50
pubmed: 21426326
Neurology. 2016 Nov 8;87(19):1975-1984
pubmed: 27733563
Nat Methods. 2018 Jun;15(6):461-468
pubmed: 29713083
Nucleic Acids Res. 1999 Jan 15;27(2):573-80
pubmed: 9862982
Brain. 2001 Dec;124(Pt 12):2459-75
pubmed: 11701600
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Neurogenetics. 2008 May;9(2):139-42
pubmed: 18231815
Genome Biol. 2014 Jun 26;15(6):R84
pubmed: 24970577
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Hum Genet. 2016 Oct;135(10):1117-25
pubmed: 27368338
Bioinformatics. 2016 Apr 15;32(8):1220-2
pubmed: 26647377
Nature. 2017 Oct 11;550(7675):204-213
pubmed: 29022597
Epilepsia. 2006 Oct;47(10):1643-9
pubmed: 17054686
Brain. 2018 Aug 1;141(8):2280-2288
pubmed: 29939203
Nat Genet. 2018 Apr;50(4):581-590
pubmed: 29507423
Bioinformatics. 2010 Jan 1;26(1):139-40
pubmed: 19910308
Am J Hum Genet. 1999 Sep;65(3):745-51
pubmed: 10441581
Am J Hum Genet. 2018 Dec 6;103(6):858-873
pubmed: 30503517
Epilepsia. 2013 Jul;54(7):1298-306
pubmed: 23663087
Epilepsy Behav. 2016 Mar;56:38-43
pubmed: 26827300
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
Cell. 2017 Aug 24;170(5):899-912.e10
pubmed: 28803727
Parkinsonism Relat Disord. 2017 May;38:35-40
pubmed: 28237853
Epilepsia. 2009 Jun;50(6):1491-7
pubmed: 19054410
Neurology. 2003 Apr 22;60(8):1381-5
pubmed: 12707452
Tremor Other Hyperkinet Mov (N Y). 2018 Jan 23;8:503
pubmed: 29416935
Neurogenetics. 2008 Feb;9(1):69-71
pubmed: 17992546
Ann Neurol. 2014 Jan;75(1):77-87
pubmed: 24114805
Hum Mutat. 2019 Apr;40(4):404-412
pubmed: 30588707
Am J Hum Genet. 2017 Jul 6;101(1):87-103
pubmed: 28686858
Brain. 2013 Oct;136(Pt 10):e253
pubmed: 23803304
Brief Bioinform. 2013 Mar;14(2):178-92
pubmed: 22517427