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

[摘要] BackgroundRett 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 PresentationWe 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.ConclusionsThe 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.

[发布日期] 2011-08-27

[关键词] Twin Pair;Monozygotic Twin;Rett Syndrome;Monozygotic Twin Pair;Wide Base Gait