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Article

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2022

Vansenne Fleur, Fock Johanna M, Stolte-Dijkstra Irene, Meiners Linda C, van den Boogaard Marie-Jose H, Jaeger Bregje, Boven Ludolf, Vos Yvonne J, Sinke Richard J, Verbeek Dineke S

Abstract excerpt

Vici syndrome (OMIM 242840) is a very rare autosomal recessive multisystem disorder first described in 1988. In 2013, bi-allelic loss-of-function mutations in EPG5 were reported to cause Vici syndrome. Five principal diagnostic features of Vici syndrome have been proposed: agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, and combined immunodeficiency. We identified 15 patients...

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PMID: 36410285
DOI: 10.1016/j.ejpn.2022.11.003

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