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A novel IRF2BPL truncating variant is associated with endolysosomal storage
Monia Ginevrino1,2, Roberta Battini3,4, Sara Nuovo1,5
1Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.
Molecular Biology Reports
|October 5, 2019
Summary
Novel mutations in the IRF2BPL gene cause neurodevelopmental disorders. This study identifies a new variant linked to psychomotor regression and lysosomal storage, expanding the known disease spectrum.
Area of Science:
- Genetics
- Neurology
- Cell Biology
Background:
- IRF2BPL gene mutations are linked to neurodevelopmental disorders.
- Previous cases presented with neuromotor regression and epilepsy.
Observation:
- A novel heterozygous truncating variant in IRF2BPL was identified in a female child.
- The patient exhibited psychomotor regression and dystonic tetraparesis after normal early development.
- Skin biopsy showed enlarged lysosomes with granular and tubular material.
Findings:
- The identified variant expands the known phenotypic spectrum of IRF2BPL-related disorders.
- This case provides the first evidence of endolysosomal storage in IRF2BPL-associated conditions.
- The patient's presentation suggests a lysosomal storage disorder.
Implications:
- This finding broadens the understanding of IRF2BPL gene function and its role in neurological diseases.
- It highlights the potential for lysosomal dysfunction in IRF2BPL-related disorders.
- Further research into IRF2BPL and lysosomal pathways may reveal new therapeutic targets.
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