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Characterization of missense mutations in the tetratricopeptide region of O-GlcNAc transferase found in patients with X-linked intellectual disability

ABSTRACT: Dfferential transcriptomics analysis of RUES-1 human embryonic stem cells edited using Crispr/Cas9 to contain four mutations in OGT found in certain patients with X-linked intellectual disability reveals changes in the gene expression profile associated with ectoderm and mesoderm development in all four mutant cell lines compared to the wild type control.

ORGANISM(S): Homo sapiens

PROVIDER: GSE110616 | GEO | 2018/04/30

REPOSITORIES: GEO

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Characterization of a novel mutation in O-GlcNAc transferase that segregates with disease in a family with X-linked intellectual disability

Project description:An X-chromosome exome sequencing analysis identified a mutation in O-GlcNAc transferase (OGT) (pL254F) in a family with X-linked intellectual disability (XLID). Affected patient lymohoblastoids exhibit decreased steady state OGT levels owing to an unstable protein compared to the unaffected, related male controls. Suprisingly, global O-GlcNAc levels remained remained unaltered. This prompted us to check the both protein and mRNA levels of the other cycling enzyme, O-GlcNAcase (OGA) which was also lowered. This implies that a compensation mechanism exists, however imperfect, owing to the disease state of the individuals. We performed glabal transcriptome analysis to assess any other changes in message between patients and controls. Our study highlights small differences in the global transcriptome of patient lymhoblastoids that have the L254F mutation in O-GlcNAc transferase when compared to familial controls using Illumina sequencing of total RNA

2016-02-25 | E-GEOD-74263 | biostudies-arrayexpress

Characterization of a novel mutation in O-GlcNAc transferase that segregates with disease in a family with X-linked intellectual disability

2016-02-25 | GSE74263 | GEO