Inherited Defect in ST6GalNAc1 Reveals Roles of Sialylation in Intestinal Homeostasis

We have conducted a study of patients with unique mutations in the gene 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.

• Type: Exome Sequencing
• Archiver: The database of Genotypes and Phenotypes (dbGaP)