De novo deletion in MECP2 in a monozygotic twin pair: a case report
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
BMC Medical Genetics 2011, 12:113 doi:10.1186/1471-2350-12-113Published: 27 August 2011
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.
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.
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.