Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

ABSTRACT: Intellectual disability (ID) disorders are genetically and phenotypically highly heterogeneous and present a major challenge in clinical genetics and medicine. Although many genes involved in ID have been identified, the etiology is unknown in most affected individuals. Moreover, the function of most genes associated with ID remains poorly characterized. Evidence is accumulating that the control of gene transcription through epigenetic modification of chromatin structure in neurons has an important role in cognitive processes and in the etiology of ID. However, our understanding of the key molecular players and mechanisms in this process is highly fragmentary. Here, we identify a chromatin-modification module that underlies a recognizable form of ID, the Kleefstra syndrome phenotypic spect

SUBMITTER: Kleefstra T 

PROVIDER: S-EPMC3397275 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature