See also: Camarena V et al (August 2014)
Trapping MBD5 to understand 2q23.1 microdeletion syndrome
Article first published online: 7 JUL 2014
© 2014 The Authors. Published under the terms of the CC BY 4.0 license
This is an open access article under the terms of the Creative Commons Attribution 4.0 License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
EMBO Molecular Medicine
Volume 6, Issue 8, pages 993–994, August 2014
How to Cite
Kwon, D. Y. and Zhou, Z. (2014), Trapping MBD5 to understand 2q23.1 microdeletion syndrome. EMBO Mol Med, 6: 993–994. doi: 10.15252/emmm.201404324
- Issue published online: 1 AUG 2014
- Article first published online: 7 JUL 2014
- Brain Research Foundation
- National Institute of Health. Grant Numbers: R01NS081054, R01MH091850
Despite genetic evidence implicating MBD5 as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD5 and its causality to 2q23.1 microdeletion syndrome, a disorder characterized by developmental delay and autistic features, has yet to be determined. In this issue of EMBO Molecular Medicine, Camarena et al generate an Mbd5 gene-trap mouse model and show for the first time that mice with reduced MBD5 expression develop behavioral abnormalities with neuronal function deficits, mimicking symptoms in 2q23.1 microdeletion syndrome, thus supporting a causal role for MBD5 haploinsufficiency in the disorder.