Mutations in GEMIN5 cause a neurodevelopmental ataxia syndrome by a loss-of-1function mechanism

GEMIN5 is a critical component of snRNP assembly complex. Patients carrying novel autosomal recessive variants in the GEMIN5 gene showed symptoms of developmental delay, central hypotonia, and cerebellar ataxia which are distinct than classical spinal muscular atrophy. We performed RNA-seq analysis in iPSC-derived differentiated neurons with biallelic GEMIN5-H913R mutation to identify global alterations in various genes and pathways mediated by GEMIN5 mutations in patients. Examination of mRNA profile of iPSC-derived differentiated neurons carrying biallelic H913R varaint of GEMIN5 with isogenic WT controls *** Raw data not submitted to GEO due to patient privacy concerns ***