A novel IRF2BPL truncating variant is associated with endolysosomal storage: Molecular Biology Reports

M. Ginevrino, R. Battini, S. Nuovo, A. Simonati, A. Micalizzi, I. Contaldo, V. Serpieri, E.M. 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. © 2019, Springer Nature B.V.
Original languageEnglish
Pages (from-to)711-714
Number of pages4
JournalMol. Biol. Rep.
Issue number1
Publication statusPublished - 2020


  • De novo mutations
  • Lysosomal storage disorders
  • Neurodegenerative disorders
  • Neuronal ceroid lipofuscinosis
  • Article
  • breech presentation
  • case report
  • cesarean section
  • child
  • clinical article
  • disease association
  • disease severity
  • dysarthria
  • dystonia
  • electron microscopy
  • falling
  • female
  • gene
  • genetic association
  • genetic variability
  • human
  • human tissue
  • hyperkinesia
  • hypersalivation
  • intellectual impairment
  • IRF2BPL gene
  • language ability
  • language delay
  • lysosome storage disease
  • pathogenesis
  • quadriplegia
  • Sanger sequencing
  • school child
  • skin biopsy
  • visual acuity
  • whole exome sequencing
  • cytology
  • degenerative disease
  • differential diagnosis
  • dna mutational analysis
  • genetics
  • lysosome
  • mutation
  • pathology
  • phenotype
  • skin
  • carrier protein
  • IRF2BPL protein, human
  • nuclear protein
  • Carrier Proteins
  • Child
  • Diagnosis, Differential
  • DNA Mutational Analysis
  • Female
  • Humans
  • Lysosomal Storage Diseases
  • Lysosomes
  • Mutation
  • Neurodegenerative Diseases
  • Nuclear Proteins
  • Phenotype
  • Skin


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