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

Corbett, MA; Kroes, T; Veneziano, L; Bennett, MF; Florian, R; Schneider, AL; 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, AF; 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, KL; 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, JW; Afawi, Z; Helbig, I; Ishiura, H; Tsuji, S; Sisodiya, SM; Casari, G; Sadleir, LG; van Coller, R; Tijssen, MAJ; Klein, KM; van den Maagdenberg, Amjm; Zara, F; Guerrini, R; Berkovic, SF; Pippucci, T; Canafoglia, L; Bahlo, M; Striano, P; Scheffer, IE; Brancati, F; Depienne, C; Gecz, J

Author(s): Corbett, MA; Kroes, T; Veneziano, L; Bennett, MF; Florian, R; Schneider, AL; 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, AF; 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, KL; 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, JW; Afawi, Z; Helbig, I; Ishiura, H; Tsuji, S; Sisodiya, SM; Casari, G; Sadleir, LG; van Coller, R; Tijssen, MAJ; Klein, KM; van den Maagdenberg, Amjm; Zara, F; Guerrini, R; Berkovic, SF; Pippucci, T; Canafoglia, L; Bahlo, M; Striano, P; Scheffer, IE; Brancati, F; Depienne, C; Gecz, J;
Details: Publication Year 2019-10-29,Volume 10,Issue #1,Page 4920
Journal Title: Nature Communications
Publication Type: Journal Article
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.
Publisher: SPringer Nature
Research Division(s): Population Health And Immunity
PubMed ID: 31664034
Publisher's Version: https://doi.org/10.1038/s41467-019-12671-y
Open Access at Publisher's Site: https://doi.org/10.1038/s41467-019-12671-y
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2019-11-20 02:45:18

Last Modified: 2019-11-21 09:47:17