Abstract
Cytogenomic Delineation and Clinical Characterization of Three Cases of MECP2 Duplication Syndrome
Highlights
Mutations in methyl-CpG-binding protein 2 gene (MECP2) on Xq28 chromosome were identified as the cause of Rett syndrome in 1999 [1]
Mutations in MECP2 on Xq28 chromosome were identified as the cause of Rett syndrome in 1999 [1]
Studies suggest that MECP2 overexpression could have a deleterious effect on brain development and function in mouse models, manifesting as seizures, spasticity, hypoactivity and early death [6]
Summary
Mutations in MECP2 on Xq28 chromosome were identified as the cause of Rett syndrome in 1999 [1]. A submicroscopic duplication encompassing MECP2 was reported in 2005 in a boy with hypotonia, intellectual disability, absent speech, loss of purposeful hand movement and development of stereotypic hand movements [2]. The use of multiplex ligation-dependent probe amplification (MLPA), and more recently, chromosomal microarray analysis (CMA), has led to the identification of an increasing number of affected males and the recognition of the MECP2 duplication syndrome phenotype. The reported clinical features in all cases include infantile hypotonia with progressive spasticity predominantly affecting the lower limbs, developmental delay leading to severe to profound intellectual disability, poor speech development, recurrent respiratory infections, and epilepsy [4]. We describe the clinical features and genomic rearrangements in three patients with MECP2 duplication
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
