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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.

Type Journal
ISBN 2041-1723 (Electronic) 2041-1723 (Linking)
Authors Corbett, M. A.; Kroes, T.; Veneziano, L.; Bennett, M. F.; Florian, R.; Schneider, A. L.; Coppola, A.; Licchetta, L.; Franceschetti, S.; Suppa, A.; Wenger, A.; Mei, D.; Pendziwiat, M.; Kaya, S.; Delledonne, M.; Straussberg, R.; Xumerle, L.; Regan, B.; Crompton, D.; van Rootselaar, A. F.; Correll, A.; Catford, R.; Bisulli, F.; Chakraborty, S.; Baldassari, S.; Tinuper, P.; Barton, K.; Carswell, S.; Smith, M.; Berardelli, A.; Carroll, R.; Gardner, A.; Friend, K. L.; Blatt, I.; Iacomino, M.; Di Bonaventura, C.; Striano, S.; Buratti, J.; Keren, B.; Nava, C.; Forlani, S.; Rudolf, G.; Hirsch, E.; Leguern, E.; Labauge, P.; Balestrini, S.; Sander, J. W.; Afawi, Z.; Helbig, I.; Ishiura, H.; Tsuji, S.; Sisodiya, S. M.; Casari, G.; Sadleir, L. G.; van Coller, R.; Tijssen, M. A. J.; Klein, K. M.; van den Maagdenberg, Amjm; Zara, F.; Guerrini, R.; Berkovic, S. F.; Pippucci, T.; Canafoglia, L.; Bahlo, M.; Striano, P.; Scheffer, I. E.; Brancati, F.; Depienne, C.; Gecz, J.
Responsible Garvan Author Shaun Carswell
Publisher Name Nature Communications
Published Date 2019-10-01
Published Volume 10
Published Issue 1
Published Pages 4920
Status Published in-print
DOI 10.1038/s41467-019-12671-y
URL link to publisher's version https://www.ncbi.nlm.nih.gov/pubmed/31664034