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

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE74263 | GEO | 2016/02/25

SECONDARY ACCESSION(S): PRJNA299615

REPOSITORIES: GEO