As a conclusion, we highlighted for the first time in a mouse model of MD and ASD that sensory impairments involved both peripheral perception and central integration defects. Our findings clearly state that the mis-wiring of neuronal connections and synaptic destabilization in the brain as in the retina lead to similar cellular and functional phenotypes. Based on our data, MD and/or ASD patients, and especially FXS patients, should be investigated on their visual perception. Hepatocyte-nuclear-factor-4a was originally identified as an endoderm specific transcriptional regulator detectable in the liver, pancreas and intestine, essential for embryonic development. Conditional genetic removal of Hnf4a function in the liver results in impaired lipid metabolism and gluconeogenesis and disorganization of morphological and functional differentiation in the hepatic epithelium. One critical set of gene products found to be Deflazacort disrupted in hepatocytes that have lost Hnf4a is related to epithelial cell adhesion and junction formation. Thus, Hnf4 a represents a potent transcriptional regulator with a strong impact on endodermal development and metabolism related pathophysiology. HNF4a has recently emerged as being a potential regulator of intestinal epithelial function. In vitro studies suggest that it stimulates intestinal epithelial cell differentiation, resulting in the formation of a tight epithelial barrier. These features are central to the differentiated epithelium to ensure nutrient metabolism and barrier protection against pathogens. Another fundamental characteristic of the epithelial barrier is to regulate appropriate ion Ademetionine selectivity, for which impairment contributes to the manifestation of inflammatory bowel disease. Hnf4a is important during early embryonic colon development and regulation of genes related to epithelial functions. The intestinal epithelial role of Hnf4a is of less importance when disrupted during post-embryonic development of the gut. Hnf4a is required to protect the epithelium during experimental colitis in young adult mice and is reduced in IBD.