A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.

Autor: Zanotta N; Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy. Electronic address: nicoletta.zanotta@lanostrafamiglia.it., Panzeri E; Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy., Minghetti S; Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy., Citterio A; Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy., Giorda R; Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy., Marelli S; Medical Genetic Service, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy., Bassi MT; Molecular Biology Laboratory, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy., Zucca C; Clinical Neurophysiology Unit, Scientific Institute, IRCCS E. Medea Via don Luigi Monza, 20, Bosisio Parini, Lecco 23842, Italy.
Jazyk: angličtina
Zdroj: Seizure [Seizure] 2024 Mar; Vol. 116, pp. 151-155. Date of Electronic Publication: 2023 Jan 23.
DOI: 10.1016/j.seizure.2023.01.015
Abstrakt: Background: 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.
Objective: 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.
Methods: 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.
Result: 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.
Discussion and Conclusion: 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.
Competing Interests: Declaration of Competing Interest None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.
(Copyright © 2023. Published by Elsevier Ltd.)
Databáze: MEDLINE
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