Open AccessTrapping MBD 5 to understand 2q23.1 microdeletion syndrome
Author(s) -
Kwon Deborah Y,
Zhou Zhaolan
Publication year - 2014
Publication title -
embo molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.923
H-Index - 107
eISSN - 1757-4684
pISSN - 1757-4676
DOI - 10.15252/emmm.201404324
Subject(s) - haploinsufficiency , microdeletion syndrome , gene deletion , gene , genetics , biology , medicine , bioinformatics , neuroscience , phenotype , mutant
Despite genetic evidence implicating MBD 5 as the only overlapping gene between various 2q23.1 microdeletions, the function of MBD 5 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 MBD 5 expression develop behavioral abnormalities with neuronal function deficits, mimicking symptoms in 2q23.1 microdeletion syndrome, thus supporting a causal role for MBD 5 haploinsufficiency in the disorder.