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Disease Report for: Neuro-ocular DAGLA-related syndrome

Alternative name(s)|NODRS
Mutation|7 mutations (e.g. : E814X_human-DAGLA, E829RfsX6_human-DAGLA, E829X_human-DAGLA... more)
OMIM: |614015

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.

    Title: Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS)
    Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A and Friedman J <24 more author(s)>
    Ref: Brain, :, 2022 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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