Article
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
American journal of human genetics - 1 Dec 2022
Parthasarathy Shridhar, Ruggiero Sarah McKeown, Gelot Antoinette, Soardi Fernanda C, Ribeiro Bethânia F R, Pires Douglas E V, Ascher David B, Schmitt Alain, Rambaud Caroline, Represa Alfonso, Xie Hongbo M, Lusk Laina, Wilmarth Olivia, McDonnell Pamela Pojomovsky, Juarez Olivia A, Grace Alexandra N, Buratti Julien, Mignot Cyril, Gras Domitille, Nava Caroline, Pierce Samuel R, Keren Boris, Kennedy Benjamin C, Pena Sergio D J, Helbig Ingo, Cuddapah Vishnu Anand
Abstract excerpt
Heterozygous pathogenic variants in DNM1 cause developmental and epileptic encephalopathy (DEE) as a result of a dominant-negative mechanism impeding vesicular fission. Thus far, pathogenic variants in DNM1 have been studied with a canonical transcript that includes the alternatively spliced exon 10b. However, after performing RNA sequencing in 39 pediatric brain samples, we find the primary transcript expressed...
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