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Updated: Jan 6, 2026
An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Published on: May 22, 2020
Adult-onset drug-resistant progressive epilepsy in a patient with novel MECP2 mutation
Sophey Ho1, Constance Smith-Hicks2, Madeline C Fields1
1Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Abstract:
Mutations in the Methyl-CpG-binding protein 2 (MECP2) gene are associated with a spectrum of neurologic disorders, most commonly of which is Rett syndrome (RTT). As these mutations occur in germ cells, neurologic symptoms usually begin in early childhood. Seizures, a common feature of MECP2-related disorders, often occur later in childhood or early adolescence. However, there has never been a documented case of progressive epilepsy and cognitive decline with onset in adulthood. Here, we present a novel case of a woman with normal developmental history who develops progressive drug-resistant epilepsy at age 27. Whole-exome sequencing revealed a loss-of-function mutation in the MECP2 gene: c.1059_1190del132ins24 that has not been previously reported. This report expands the phenotypic spectrum of MECP2-related epilepsy.
Insights
A novel Methyl-CpG-binding protein 2 (MECP2) gene mutation caused adult-onset progressive epilepsy and cognitive decline. This finding expands the known spectrum of MECP2-related disorders beyond typical early childhood presentations.
Area of Science:
- Neurogenetics
- Molecular Neurology
Background:
- Mutations in the Methyl-CpG-binding protein 2 (MECP2) gene are linked to neurologic disorders, primarily Rett syndrome (RTT), typically presenting in early childhood.
- Seizures are common in MECP2-related disorders, usually appearing in late childhood or early adolescence.
Purpose of the Study:
- To report a novel case of adult-onset progressive epilepsy and cognitive decline associated with a previously unreported MECP2 mutation.
- To expand the understanding of the phenotypic spectrum of MECP2 gene-related epilepsy.
Main Methods:
- Case presentation of a woman with normal development who developed drug-resistant epilepsy at age 27.
- Whole-exome sequencing to identify the genetic cause of the adult-onset neurologic symptoms.
Main Results:
- A novel loss-of-function mutation in the MECP2 gene (c.1059_1190del132ins24) was identified.
- The identified mutation has not been previously reported in the literature.
Conclusions:
- This case demonstrates that MECP2 mutations can manifest with progressive epilepsy and cognitive decline starting in adulthood.
- The findings broaden the clinical spectrum of MECP2-related neurological disorders.
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