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

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.

SUBMITTER: Mittal K

PROVIDER: S-EPMC3176152 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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

Mittal Kirti K Kabra Madhulika M Juyal Ramesh R BK Thelma T

BMC medical genetics 20110827

<h4>Background</h4>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.<h4>Case presentation</h4>We investigated 13 year old, monozygotic twin females with RTT and some noticeable differences in development using a combinatorial appr ...[more]

PMID: 21871116

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