A new gene has been identified in individuals with Adams-Oliver Syndrome

April 15, 2013 in News by cynthia

High throughput sequencing identified new mutations in AOS patients. The mutations locate in EOGT, and the gene product is EGF-domain-specific O-linked N-acetylglucosamine (O-GlcNAc) transferase. Study of fruit flies showed that deficiency of this product led to wing blistering.

To read more: http://www.ncbi.nlm.nih.gov/pubmed/23522784?dopt=Abstract