Molecular characteristics

Mutations found in known patients are either homozygous or compound heterozygous loss-of-function mutations. Functional analysis on patient-derived fibroblasts showed undetectable levels of the OXR1 protein. Wang et al. (2019) suggest that OXR1 plays a role in lysosomal acidification, therefore, mutations result in lysosomal dysfunction and defects in autophagy. Bjørås et al. (2022) recent research suggests that pathological phenotypes in patients lymphoblasts are rescued by TLDc domain replacement. Dysregulation of gene essential to neurodevelopment and impaired neural differentiation were identified in patients’ induced pluripotent stem cells. This study revealed that OXR1 participates in spatial-temporal regulation of histone arginine methylation during human brain development.