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Open Access Highly Accessed Case report

De novo deletion in MECP2 in a monozygotic twin pair: a case report

Kirti Mittal1, Madhulika Kabra2, Ramesh Juyal3 and Thelma BK1*

Author Affiliations

1 Genetics, University of Delhi South Campus, Benito Juarez Road, New Delhi 110021, India

2 Pediatrics, All India Institute of Medical Sciences, New Delhi 110608, India

3 National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi, 110067, India

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BMC Medical Genetics 2011, 12:113  doi:10.1186/1471-2350-12-113

Published: 27 August 2011

Abstract

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.