Neuro-ocular DAGLA-related syndrome

Alternative name(s) : NODRS

Gene_locus : human-DAGLA

Mutation : 7 mutations E814X_human-DAGLA E829RfsX6_human-DAGLA E829X_human-DAGLA Q851X_human-DAGLA H819PfsX5_human-DAGLA Y790X_human-DAGLA S872QfsX6human-DAGLA

OMIM : 614015

Comment

Seven unique DAGLA variants identified in nine children from eight families. All variants lead to premature protein truncation proximally in the final exon and disrupt multiple predicted phosphorylation sites and a protein-protein interaction domain with HOMER scaffolding proteins. Mutations where outside the alpha\/beta hydrolase domain and had no effect on DAGLA enzymatic activity. The defect could be du to mis-localized DAGLA. Patients showed a neuro-ocular phenotype characterized by developmental delay, ataxia, and complex oculomotor abnormality with paroxysms of nystagmus or eye deviation accompanied by compensatory head posture and worsened incoordination most frequently after waking.