Article
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Autism research : official journal of the International Society for Autism Research - 1 Dec 2012
Cukier Holly N, Lee Joycelyn M, Ma Deqiong, Young Juan I, Mayo Vera, Butler Brittany L, Ramsook Sandhya S, Rantus Joseph A, Abrams Alexander J, Whitehead Patrice L, Wright Harry H, Abramson Ruth K, Haines Jonathan L, Cuccaro Michael L, Pericak-Vance Margaret A, Gilbert John R
Abstract excerpt
The methyl-CpG-binding domain (MBD) gene family was first linked to autism over a decade ago when Rett syndrome, which falls under the umbrella of autism spectrum disorders (ASDs), was revealed to be predominantly caused by MECP2 mutations. Since that time, MECP2 alterations have been recognized in idiopathic ASD patients by us and others. Individuals with deletions across the MBD5 gene also present with ASDs,...
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