Odelia Chorin, Yoel Hirsch, Rachel Rock, Liat Salzer Sheelo, Yael Goldberg, Hanna Mandel, Tova Hershkovitz, Nicole Fleischer, Lior Greenbaum, Uriel Katz, Ortal Barel, Nasrin Hamed, Bruria Ben-Zeev, Shoshana Greenberger, Nadra Nasser Samra, Michal Stern Zimmer, Annick Raas-Rothschild, Ben Pode-Shakked
Introduction: Vici Syndrome is a rare, severe, neurodevelopmental/neurodegenerative disorder with multi-systemic manifestations presenting in infancy. It is mainly characterized by global developmental delay, seizures, agenesis of the corpus callosum, hair and skin hypopigmentation, bilateral cataract, and varying degrees of immunodeficiency, among other features. Vici Syndrome is caused by biallelic pathogenic variants in EPG5 , resulting in impaired autophagy. Thus far, the condition has been reported in less than a hundred individuals...
2022: Frontiers in Genetics