A Novel Constitutively Active , p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization

Figure 1

Neuroimaging and genetic analysis data on the patient. Brain images obtained at 1 year and 8 months old (a) and 5 years and 8 months old (b). Respective axial T1-weighted images (the top-left and bottom-left) and T2-weighted images (the top-center and bottom-center), a sagittal T1-weighted image (the top-right), and a coronal T2-weighted image (the bottom-right) are shown. All images indicate hypomyelination in the patient’s brain. (c) Sanger sequencing validated de novo variant in RAB11A. Electropherograms from the patient and his parents are shown. (d) Schematic RAB11A structure displaying the small GTP-binding protein domain, and the switch I and II domains. Amino acid positions predicted to be substituted in individuals with intellectual disability/developmental delay reported previously are presented above, and the position putatively substituted in the present case is below. Aligned partial amino acid residues in various species RAB11A/Rab11a are shown below, and conserved Arg33 across species is boxed.

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