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Case Reports
. 2011 Aug 27:12:113.
doi: 10.1186/1471-2350-12-113.

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

Kirti Mittal  1 , Madhulika Kabra, Ramesh Juyal, Thelma BK
Affiliations
Case Reports

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

Kirti Mittal et al. BMC Med Genet. .

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.

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