A novel IRF2BPL truncating variant is associated with endolysosomal storage.

A novel IRF2BPL truncating variant is associated with endolysosomal storage.
Mol Biol Rep. 2019 Oct 03;:
Authors: Ginevrino M, Battini R, Nuovo S, Simonati A, Micalizzi A, Contaldo I, Serpieri V, Valente EM
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.
PMID: 31583567 [PubMed - as supplied by publisher]

Source: Molecular Biology Reports - October 2, 2019 Category: Molecular Biology Authors: Ginevrino M, Battini R, Nuovo S, Simonati A, Micalizzi A, Contaldo I, Serpieri V, Valente EM Tags: Mol Biol Rep Source Type: research