Whole genome expression analysis of a skin biopsy from two individuals with ectodermal dysplasia features associated with hearing loss in GRHL2

Whole-genome expression microarray analysis was performed using RNA extracted from skin biopsies sampled from two related and affected individuals as well as 4 pooled, healthy controls. The hypothesis was that the downstream effects of the inherited GRHL2 missense mutation in the two siblings would be evident by enriched pathways and processess linked to the cutaneous roles of the grainyhead like-2 protein. Functional analysis of the results identified a multitude of enriched gene ontology (GO) processes, pathways, networks and disease-associated transcripts related to the function of GRHL2 in the affected individuals' samples compared to controls. Results provide important information about significantly up-regulated and down-regulated GO networks, pathways and processes involved in epithelial morphogenesis . Total RNA extracted from two skin biopsies from each of the affected individuals was compared to skin biopsies from 4 pooled, healthy controls.