title: 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.
  
  
  METHODS
  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.
authors.affiliation: Genetics, University of Delhi South Campus, Benito Juarez Road, New Delhi 110021, India.
authors.forename: Kirti
authors.initials: K
authors.lastname: Mittal
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Ramesh
authors.initials: R
authors.lastname: Juyal
authors.forename: Thelma
authors.initials: T
authors.lastname: BK
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D041321:Chromosomes, Human, X / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics*; D005091:Exons; D005260:Female; D018628:Gene Dosage; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000737:chemistry / Q000235:genetics*; D018895:Microsatellite Repeats; D017434:Protein Structure, Tertiary; D015518:Rett Syndrome / Q000235:genetics*; D017384:Sequence Deletion; D014430:Twins, Monozygotic
chemical_list: D017931:DNA Primers; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2