The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.
The MECP2 duplication syndrome
Open accessAbstract
In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X‐linked neurodevelopmental disorder. MECP2 duplication syndrome is 100% penetrant in affected males and is associated with infantile hypotonia, severe to profound mental retardation, autism or autistic features, poor speech development, recurrent infections, epilepsy, progressive spasticity, and, in some cases, developmental regression. Most of the reported cases are inherited, however, de novo cases have been documented. While carrier females have been reported to be unaffected, more recent research demonstrates that despite normal intelligence, female carriers display a range of neuropsychiatric phenotypes that pre‐date the birth of an affected son. Given what we know of the syndrome to date, we propose that genetic testing is warranted in cases of males with infantile hypotonia and in cases of boys with mental retardation and autistic features with or without recurrent infections, progressive spasticity, epilepsy, or developmental regression. We discuss recommendations for clinical management and surveillance as well as the need for further clinical, genotype–phenotype, and molecular studies to assist the patients and their families who are affected by this syndrome. © 2010 Wiley‐Liss, Inc.
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Cites
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Strong association of de novo copy number mutations with autism
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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
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Structural Variation of Chromosomes in Autism Spectrum Disorder
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“…genes that are linked to autism and other neuropsychiatric disorders, as well as data to suggest that the overall burden of CNV in the genome may contribute to such disorders [Sebat et al., 2007; Cook and Scherer, 2008; Marshall et al., 2008; Walsh et al., 2008; Glessner et al., 2009].”
BackgroundRare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
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Fox, J. W., Lamperti, E. D., Ekşioğlu, Y. Z., Hong, S. E., Feng, Y., Graham, D. A., Scheffer, I. E., Dobyns, W. B., Hirsch, B. A., Radtke, R. A., et al. (1998) · Neuron · doi:10.1016/s0896-6273(00)80651-0 · Cited by 880
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Copy-number variations associated with neuropsychiatric conditions
Cook Jr, E. H., & Scherer, S. W. (2008) · Nature · doi:10.1038/nature07458 · Cited by 659 · cited 1×
“…genes that are linked to autism and other neuropsychiatric disorders, as well as data to suggest that the overall burden of CNV in the genome may contribute to such disorders [Sebat et al., 2007; Cook and Scherer, 2008; Marshall et al., 2008; Walsh et al., 2008; Glessner et al., 2009].”
Background
Cited by
Betancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954
Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797
Martínez‐Cerdeño, V. (2017) · Developmental Neurobiology · doi:10.1002/dneu.22417 · Cited by 256
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy
Millan, M. J. (2013) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.11.015 · Cited by 229
Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR
Ebert, D. H., Gabel, H. W., Robinson, N. D., Kastan, N. R., Hu, L. S., Cohen, S., Navarro, A. J., Lyst, M. J., Ekiert, R., Bird, A. P., et al. (2013) · Nature · doi:10.1038/nature12348 · Cited by 227
Metadata
- Authors
- Ramocki, M. B., Tavyev, Y. J., & Peters, S. U.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2010-04-02
- Volume
- 152A
- Issue
- 5
- Pages
- 1079-1088
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2106360880
- Cited by
- 300
- References
- 49
- FWCI
- 10.73
- Type
- journal article
- Language
- en
- Open access
- bronze
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