Chromosome - 3 SNP - rs9812253 Gene Name - EOGT

Basic Information

Genotype Frequency
  • AA
  • AC
  • CC
  • --
Allele Frequency
  • A
  • C
  • --

SNP Expression Description

General SNP Description

More research is being conducted on this SNP. EOGT gene provides instructions for making a protein that modifies some other proteins by transferring N-Acetylglucosamine to them. N-Acetylglucosamine is a monosaccharide (basic carbohydrate) derivative of glucose. This specific change results in an O-linked N-acetylglucosamine, essentially an addition of an oxygen molecule to a sugar derivate (N-Acetylglucosamine). It can affect stability of proteins as well as regulate several cellular processes such as cell-signaling and transcription, which is the first step in the production of proteins from genes. Some studies suggest that the protein encoded by EOGT gene can modify Notch proteins. Notch signaling pathway plays an important role in cell-cell signaling interactions and regulates embryonic development. Mutations in the EOGT gene are associated with autosomal recessive Adams- Oliver Disease (AOS), meaning that both copies of the gene must be mutated in order for the disease to be inherited by the offspring. AOS is a rare condition that is present at birth and is categorized by a variety of symptoms. Some of the prominent symptoms are: aplasia cutis congenita(abnormality in skin development), and malformations of the limbs. Most people with AOS will aplasia cutis congenita, a condition which is categorized by localized areas of missing skin, specifically occurring on top of the head. These localized areas might have underdeveloped bone underneath, scarring, and absence of hair growth. In addition to that, abnormalities in fingers, toes, and fingernails are common as well. For instance, fingers and toes could be fused together (syndactyly) and/or abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In other cases, other bones in the hands, feet, or lower limbs are malformed or missing. Some infants may develop a condition called, cutis marmorata telangiectatica congenita this disorder causes a reddish or purplish net-like pattern on the skin. In addition to that, people with this disorder can develop heart problems such as high blood pressure in the blood vessels that carry blood from heart to lungs, which can be life threatening. Other blood vessel and heart problems, as well as neurological problems (i.e. learning disabilities, developmental delay,etc.) are possible.

For more information, please schedule a consult with one of our HealthCoach7 Genetic Specialist.