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

• Main Authors: Romain Nicolle (Author), Nami Altin (Author), Karine Siquier-Pernet (Author), Sherlina Salignac (Author), Pierre Blanc (Author), Arnold Munnich (Author), Christine Bole-Feysot (Author), Valérie Malan (Author), Barthélémy Caron (Author), Patrick Nitschké (Author), Isabelle Desguerre (Author), Nathalie Boddaert (Author), Marlène Rio (Author), Antonio Rausell (Author), Vincent Cantagrel (Author)
• Format: Book
• Published: BMC, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 encephalopathy. A variant (NM_020320.3:c.-2A > G) in the promoter and 5'UTR...