A novel IRF2BPL truncating variant is associated with endolysosomal storage

Monia Ginevrino, Roberta Battini, Sara Nuovo, Alessandro Simonati, Alessia Micalizzi, Ilaria Contaldo, Valentina Serpieri, Enza Maria Valente

Research output: Contribution to journalArticlepeer-review


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 languageEnglish
JournalMolecular Biology Reports
Publication statusAccepted/In press - Jan 1 2019


  • De novo mutations
  • Lysosomal storage disorders
  • Neurodegenerative disorders
  • Neuronal ceroid lipofuscinosis

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics


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