Inherited Defect in ST6GalNAc1 Reveals Roles of Sialylation in Intestinal Homeostasis

ST6GALNAC1 that encodes the protein ST6GALNAC1 (ST6). Exome sequencing was used to screen worldwide inflammatory bowel disease cohorts, which identified human loss of function mutations of ST6 in individual patients. The affected patients had very early onset (< 6 years old) inflammatory bowel disease. A comprehensive investigation of these gene mutations through in vivo and in vitro experiments revealed that decreased sialylation caused defective mucus proteins and congenital inflammatory bowel disease.]]>
Inclusion CriteriaPatients have or are suspected to have an inherited disease of the immune system. Because of the intensive time and labor which are required for research laboratory testing, patients are enrolled only based on the opinion of the investigator that there is a high index of suspicion. Biological relatives of enrolled patients are eligible for enrollment. There is no limit to age, sex, race, or disability.]]>