Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy.
Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy.
Seizure. 2024 Mar;116:151-155. doi: 10.1016/j.seizure.2023.01.015. Epub 2023 Jan 23.
Membrane Protein Palmitoylated 5 (MPP5) is a highly conserved apical complex protein, essential for cell polarity. Defects in neuronal cell polarity are associated with neurologic disorders. Only three patients with heterozygous MPP5 de novo variants have been reported so far, with global developmental delay, behavioral changes and in only one case epileptic seizures.
To describe a new patient with a novel truncating de novo mutation in MPP5 and to characterize in detail the epileptic phenotype and electroencephalographic features of the encephalopathy.
We identified a novel truncating de novo mutation in MPP5 in a 44 year old patient by exome sequencing (p.Ser498Phefs*15). We retrospectively analyzed his clinical and instrumental data along a thirty-year follow up.
Our patient presents with generalized tonic-clonic seizures, myoclonic and clonic seizures, non-epileptic myoclonus, tremor, severe intellectual disability, mild face dysmorphic traits, and psychosis.
We present a case of a childhood onset developmental encephalopathy with a likely-pathogenic variant in the MPP5 gene.. This represents the first complete description of the epileptic syndrome associated with the MPP5 gene.
膜蛋白棕榈酰化 5（MPP5）是一种高度保守的顶复体蛋白，对细胞极性至关重要。神经元细胞极性缺陷与神经紊乱有关。迄今为止，仅报道了三例杂合子 MPP5 新生变异患者，表现为全面发育迟缓、行为改变，仅一例有癫痫发作。
描述一名新的 MPP5 新生截断突变患者，并详细描述脑病的癫痫表型和脑电图特征。
我们通过外显子组测序（p.Ser498Phefs*15）在一名 44 岁的患者中发现了一个新的 MPP5 新生截断突变。我们对他的临床和仪器数据进行了回顾性分析，随访时间长达 30 年。
我们的患者表现为全身性强直阵挛发作、肌阵挛和阵挛发作、非癫痫性肌阵挛、震颤、严重智力残疾、轻度面部畸形特征和精神病。
我们报告了一例儿童起病的发育性脑病，该患者 MPP5 基因存在可能致病的变异。这是首例与 MPP5 基因相关的癫痫综合征的完整描述。
