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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-12

AUTHORS

Kirti Mittal, Madhulika Kabra, Ramesh Juyal, Thelma BK

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. More... »

PAGES

113

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1471-2350-12-113

DOI

http://dx.doi.org/10.1186/1471-2350-12-113

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010950883

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21871116


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57 schema:description 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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