A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia

Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic ence...

Source: BMC Medical Genomics - June 21, 2023 Category: Genetics & Stem Cells Authors: Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Val érie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell and Vin Tags: Research Source Type: research