Fig. 3: Brain magnetic resonance image (MRI) affected individuals carrying expected-pathogenic variants in ARFGEF1. | Genetics in Medicine

Fig. 3: Brain magnetic resonance image (MRI) affected individuals carrying expected-pathogenic variants in ARFGEF1.

From: Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Fig. 3: Brain magnetic resonance image (MRI) affected individuals carrying expected-pathogenic variants in ARFGEF1.

Brain MRI of individual 3 carrying the NM_006421.4:c.3592-2A>G variant (a–j), and of individual 2 carrying the p.(Arg1774*) variant (k–o). T1-weighted sagittal (a), axial T1 (b–e) and T2 fluid-attenuated inversion recovery (FLAIR) (k–m), and coronal (f–I and n–o) brain imaging. Note the nodular periventricular heterotopia (white arrows), occipital meningocele (blue arrow), and disrupted cerebellar vermis (red arrows) for patient 3 and the bilateral and diffuse signal hyperintensities of the subcortical white matter, especially of the posterior regions (yellow arrows) for individual 2.

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