A novel IRF2BPL truncating variant is associated with endolysosomal storage

M. Ginevrino, R. Battini, S. Nuovo, A. Simonati, A. Micalizzi, I. Contaldo, V. Serpieri, E.M. Valente

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De novo mutations in the IRF2BPL gene have been identified to date in 18 patients presenting with neuromotor regression, epilepsy and variable neurological signs. Here, we report a female child carrying a novel heterozygous truncating variant in IRF2BPL. Following normal development for two and half years, she developed a progressive neurological condition with psychomotor regression, dystonic tetraparesis with hyperkinetic movements, but no overt epilepsy. Skin biopsy revealed enlarged lysosomes containing granular and tubular material, suggestive of a lysosomal storage disorder. This case expands the IRF2BPL phenotypic spectrum, for the first time providing evidence of endolysosomal storage.

Original languageItalian
Pages (from-to)711-714
Number of pages4
JournalMolecular Biology Reports
Issue number1
Publication statusPublished - 2020

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