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Updated: May 29, 2026

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Published on: May 22, 2020
De novo deletion in MECP2 in a monozygotic twin pair: a case report
Kirti Mittal1, Madhulika Kabra, Ramesh Juyal
1Genetics, University of Delhi South Campus, Benito Juarez Road, New Delhi 110021, India.
Background:
Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder predominantly observed in females that leads to intellectual disability. Mutations and gross rearrangements in MECP2 account for a large proportion of cases with RTT. A limited number of twin pairs with RTT have also been reported in literature.
Case Presentation:
We investigated 13 year old, monozygotic twin females with RTT and some noticeable differences in development using a combinatorial approach of sequencing and Taqman assay. Monozygosity status of the twins was confirmed by informative microsatellite markers.
Conclusions:
The twins shared a de novo deletion in exon 3 in the MBD domain of MECP2. To the best of our knowledge, this is only the second report of genetic analysis of a monozygotic twin pair.
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