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OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development Volume 23, issue 6, December 2021

Figure 1

(A, B) Pedigrees of the two families. Squares represent males, circles represent females, and black symbols indicate clinically affected individuals. (A) Family 1. IV-3: Patient 1; IV-6: Patient 2. (B) Family 2. IV-3: Patient 3. (C, D) Partial electropherograms show the OCLN variants in the two families. The NM_001205254.1:c.173_194del, p.(Trp58Phefs*10) variant detected in Family 1 (C) was homozygous in Patient 1 and Patient 2, but heterozygous in their mother and father. In Family 2 (D), Patient 3 was homozygous for the OCLN NM_001205254.1:c.199A>T, p.(Ile67Phe) variant, whereas the father, mother, and sister were heterozygous.

Figure 2

Brain images of the three patients. (A-C) Patient 1. Axial T2-weighted MRI shows cerebral atrophy, occipital polymicrogyria (white arrow) and periventricular white matter hyperintensity (red arrow) (A), and slight cerebellar atrophy (B). Note the thin corpus callosum with mild vermis hypoplasia/atrophy and polymicrogyria on the T1-weighted image (C). (D-F) Patient 2. Polymigrogyria findings are indicated by the arrows on axial T2 sequences (3 Tesla cranial MRI visualization). (G-L) Patient 3. Sagittal T1A-weighted image shows a thin corpus callosum as well as small hyperintense and hypointense areas in the periventricular region; there is a small periventricular hyperintense area consistent with calcification (G, H). Brain CT shows that the ventricles are mildly dilated and a subacute-phase haemorrhage that appears mildly hyperintense in periventricular white matter areas (I, J). Axial T-FLAIR shows a moderately wide view of the lateral ventricles within physiological limits (K, L).

Figure 3

Schematic representation of the OCLN gene (A) and the occludin protein (B), showing the variants reported to date. The two variants described in this study are indicated in red in boxes.