<it>De novo </it>deletion in <it>MECP2 </it>in a monozygotic twin pair: a case report

• Main Authors: Juyal Ramesh, Kabra Madhulika, Mittal Kirti, BK Thelma
• Format: Article
• Language: English
• Published: BMC 2011-08-01
• Series: BMC Medical Genetics
• Online Access: http://www.biomedcentral.com/1471-2350/12/113

<p>Abstract</p> <p>Background</p> <p>Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder predominantly observed in females that leads to intellectual disability. Mutations and gross rearrangements in <it>MECP2 </it>account for a large proportion of cases with RTT. A limited number of twin pairs with RTT have also been reported in literature.</p> <p>Case Presentation</p> <p>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.</p> <p>Conclusions</p> <p>The twins shared a <it>de novo </it>deletion in exon 3 in the MBD domain of <it>MECP2</it>. To the best of our knowledge, this is only the second report of genetic analysis of a monozygotic twin pair.</p>