Related Experiment Video
Updated: Mar 12, 2026
07:44
An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Published on: May 22, 2020
28.5K
A novel heterozygous pathogenic variation in the MECP2 gene causing typical Rett syndrome: a case report
Yuan Zheng1, Ying Yang1, Li He1
1Department of Pediatrics, Xi'an Children's Hospital, Xi'an, China.
Translational Pediatrics
|March 11, 2026
Summary
Functional validation confirmed a novel MECP2 mutation causes Rett syndrome (RTT) in a female child. This loss-of-function mutation, identified via whole-exome sequencing, leads to reduced MECP2 mRNA and protein levels.
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- Rett syndrome (RTT) is a significant X-linked neurodevelopmental disorder primarily affecting females.
- Mutations in the methyl-CpG-binding protein 2 (MECP2) gene are the primary cause of most RTT cases.
- Functional validation is crucial for determining the pathogenicity of newly identified MECP2 variants.
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