期刊
MOLECULAR BIOLOGY REPORTS
卷 47, 期 1, 页码 711-714出版社
SPRINGER
DOI: 10.1007/s11033-019-05109-7
关键词
IRF2BPL; De novo mutations; Neurodegenerative disorders; Lysosomal storage disorders; Neuronal ceroid lipofuscinosis
资金
- European Research Council (ERC) [260888]
- Pierfranco and Luisa Mariani Foundation (PADAPORT project)
- Italian Ministry of Health (Ricerca Finalizzata 2013) [NET-2013-02356160]
- Italian Ministry of Health (Ricerca Corrente 'Neuroscienze Sperimentali')
- Italian Ministry of Health (5x1000 Anno 2016)
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.
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