A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.

Afrooz SepahvandEhsan Razmara Fatemeh Bitarafan Mohammad Galehdari Ali Reza TavasoliNavid AlmadaniMasoud Garshasbi

Published in: Molecular genetics & genomic medicine (2020)

We identified a novel synonymous variant, c.1170G>A, in TSEN54 associated with PCH in an Iranian family. Based on this study, we strongly suggest using "TSENopathies" to show the overlapped phenotypes among different types of PCH resulted from TSEN causative mutations.

Keyphrases

dna damage
oxidative stress