TY - JOUR
T1 - A novel IRF2BPL truncating variant is associated with endolysosomal storage
AU - Ginevrino, Monia
AU - Battini, Roberta
AU - Nuovo, Sara
AU - Simonati, Alessandro
AU - Micalizzi, Alessia
AU - Contaldo, Ilaria
AU - Serpieri, Valentina
AU - Valente, Enza Maria
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - De novo mutations
KW - IRF2BPL
KW - Lysosomal storage disorders
KW - Neurodegenerative disorders
KW - Neuronal ceroid lipofuscinosis
U2 - 10.1007/s11033-019-05109-7
DO - 10.1007/s11033-019-05109-7
M3 - Article
JO - Molecular Biology Reports
JF - Molecular Biology Reports
SN - 0301-4851
ER -