A recurrent de novo splice site variant involving DNM1 alternative exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
Shridhar Parthasarathy, Sarah McKeown Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires, David Benjamin Ascher, Alain Schmitt, Caroline Rambaud, Alfonso Represa, Hongbo Michael Xie, Laina G. Lusk, Olivia Wilmarth, Pamela Pojomovsky McDonnell, Olivia A Juarez, , Vishnu Anand Cuddapah
The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.
The American Journal of Human Genetics · Nov 21, 2022Peer-reviewedGenetics