Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

Kivrak Pfiffner, Fatma; Koller, Samuel; Ménétrey, Anika; Graf, Urs; Bähr, Luzy; Maspoli, Alessandro; Hackenberg, Annette; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang

doi:10.3390/ijms23137382

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Kivrak Pfiffner, F., Koller, S., Ménétrey, A., Graf, U., Bähr, L., Maspoli, A., Hackenberg, A., Kottke, R., Gerth-Kahlert, C., & Berger, W. (2022). Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment. International Journal of Molecular Sciences, 23(13), 7382. https://doi.org/10.3390/ijms23137382

Abstract

Early infantile epileptic encephalopathy (EIEE) is a severe neurologic and neurodevelopmental disease that manifests in the first year of life. It shows a high degree of genetic heterogeneity, but the genetic origin is only identified in half of the cases. We report the case of a female child initially diagnosed with Leber congenital amaurosis (LCA), an early-onset retinal dystrophy due to photoreceptor cell degeneration in the retina. The first examination at 9 months of age revealed no reaction to light or objects and showed wanderi