Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.
Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy.
Mol Biol Rep. 2020 Jan;47(1):711-714. doi: 10.1007/s11033-019-05109-7. Epub 2019 Oct 3.
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.
迄今为止，已有 18 名出现神经运动性倒退、癫痫和各种神经体征的患者被发现 IRF2BPL 基因中有新生突变。在此，我们报告了一名女性患儿，其 IRF2BPL 中存在一种新型杂合截断变异。在正常发育两年半后，她出现了进行性神经疾病，伴有精神运动倒退、张力障碍性四肢瘫痪伴多动，但没有明显的癫痫。皮肤活检显示含有颗粒状和管状物质的溶酶体增大，提示溶酶体贮积症。该病例扩展了 IRF2BPL 的表型谱，首次提供了内溶酶体贮积的证据。
