Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome.

ABSTRACT: Background: Biallelic variations in the armadillo repeat-containing 9 (ARMC9) gene were recently defined to cause Joubert syndrome (JS) type thirty. In this study, two unrelated families with probands displaying typical indications of JS were enrolled and underwent a series of clinical and genetic investigations. Methods: Routine evaluation including magnetic resonance imaging (MRI) was carried out. Whole-exome sequencing (WES) was performed on the probands to detect causative variants. Next, in silico structural and molecular dynamic (MD) analysis was conducted on the missense variant for analyzing its intramolecular impact. Meanwhile, an in vitro study with the minigene system was performed to explore the specific impact on mRNA splicing of another vari

SUBMITTER: Wang H 

PROVIDER: S-EPMC8855066 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature