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.

A novel IRF2BPL truncating variant is associated with endolysosomal storage / Ginevrino, M.; Battini, R.; Nuovo, S.; Simonati, A.; Micalizzi, A.; Contaldo, I.; Serpieri, V.; Valente, E. M.. - In: MOLECULAR BIOLOGY REPORTS. - ISSN 0301-4851. - 47:1(2020), pp. 711-714. [10.1007/s11033-019-05109-7]

A novel IRF2BPL truncating variant is associated with endolysosomal storage

Nuovo S.;
2020

Abstract

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.
2020
De novo mutations; IRF2BPL; Lysosomal storage disorders; Neurodegenerative disorders; Neuronal ceroid lipofuscinosis; Carrier Proteins; Child; DNA Mutational Analysis; Diagnosis, Differential; Female; Humans; Lysosomes; Mutation; Neurodegenerative Diseases; Nuclear Proteins; Phenotype; Skin; Lysosomal Storage Diseases
01 Pubblicazione su rivista::01i Case report
A novel IRF2BPL truncating variant is associated with endolysosomal storage / Ginevrino, M.; Battini, R.; Nuovo, S.; Simonati, A.; Micalizzi, A.; Contaldo, I.; Serpieri, V.; Valente, E. M.. - In: MOLECULAR BIOLOGY REPORTS. - ISSN 0301-4851. - 47:1(2020), pp. 711-714. [10.1007/s11033-019-05109-7]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1540211
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