Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

ABSTRACT:

Background

Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders.

Methods

Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.

Results

Integrating genomics, transcriptomics, and epigenomics data, we describe two novel DLG2 promoters and coding first exons expressed in human fetal brain. Their murine conservation and protein-level evidence allowed us to produce new DLG2 ge

SUBMITTER: Reggiani C 

PROVIDER: S-EPMC5518101 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature