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

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.

SUBMITTER: Corbett MA 

PROVIDER: S-EPMC6820779 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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

Corbett Mark A MA   Kroes Thessa T   Veneziano Liana L   Bennett Mark F MF   Florian Rahel R   Schneider Amy L AL   Coppola Antonietta A   Licchetta Laura L   Franceschetti Silvana S   Suppa Antonio A   Wenger Aaron A   Mei Davide D   Pendziwiat Manuela M   Kaya Sabine S   Delledonne Massimo M   Straussberg Rachel R   Xumerle Luciano L   Regan Brigid B   Crompton Douglas D   van Rootselaar Anne-Fleur AF   Correll Anthony A   Catford Rachael R   Bisulli Francesca F   Chakraborty Shreyasee S   Baldassari Sara S   Tinuper Paolo P   Barton Kirston K   Carswell Shaun S   Smith Martin M   Berardelli Alfredo A   Carroll Renee R   Gardner Alison A   Friend Kathryn L KL   Blatt Ilan I   Iacomino Michele M   Di Bonaventura Carlo C   Striano Salvatore S   Buratti Julien J   Keren Boris B   Nava Caroline C   Forlani Sylvie S   Rudolf Gabrielle G   Hirsch Edouard E   Leguern Eric E   Labauge Pierre P   Balestrini Simona S   Sander Josemir W JW   Afawi Zaid Z   Helbig Ingo I   Ishiura Hiroyuki H   Tsuji Shoji S   Sisodiya Sanjay M SM   Casari Giorgio G   Sadleir Lynette G LG   van Coller Riaan R   Tijssen Marina A J MAJ   Klein Karl Martin KM   van den Maagdenberg Arn M J M AMJM   Zara Federico F   Guerrini Renzo R   Berkovic Samuel F SF   Pippucci Tommaso T   Canafoglia Laura L   Bahlo Melanie M   Striano Pasquale P   Scheffer Ingrid E IE   Brancati Francesco F   Depienne Christel C   Gecz Jozef J  

Nature communications 20191029 1

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 in  ...[more]

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