De novo deletion in MECP2 in a monozygotic twin pair: a case report
2011
Genetic Analysis of Monozygotic Twins with Rett Syndrome
Sample size: 2
publication
Evidence: low
Author Information
Author(s): Mittal Kirti, Kabra Madhulika, Juyal Ramesh, BK Thelma
Primary Institution: Genetics, University of Delhi South Campus
Hypothesis
What genetic factors contribute to the differences observed in monozygotic twins with Rett syndrome?
Conclusion
The twins shared a de novo deletion in exon 3 of the MECP2 gene, which may explain their Rett syndrome diagnosis.
Supporting Evidence
- The twins were confirmed to be monozygotic through microsatellite markers.
- Both twins exhibited a deletion in exon 3 of the MECP2 gene.
- The genetic analysis was approved by an ethical committee and informed consent was obtained.
Takeaway
This study looked at two identical twins who both have Rett syndrome and found a genetic change that they didn't inherit from their parents.
Methodology
The study used sequencing and Taqman assay to analyze the MECP2 gene in the twins.
Limitations
The study is based on a small sample size of only two individuals.
Participant Demographics
The participants were 13-year-old monozygotic twin females.
Digital Object Identifier (DOI)
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