We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients.
- Authors
Ashton, James J.; Mossotto, Enrico; Beattie, R. Mark; Ennis, Sarah
- Abstract
The percentage of our patients, as a proportion of IBD patients sequenced, possessing these alleles is 1.2% (5 patients), contrasting to the 1 patient (0.22-0.35%) expected from curated frequency databases. Three patients (patients 1, 3, and 4) harbored the common synonymous p.E232E variant (CADD 9.5) and one (patient 5) harbored the synonymous p.S66S variant (CADD 17.63). In this study, we identify five pediatric IBD patients harboring variants on the same chromosome, previously described as disease-causing when inherited in compound heterozygosity.
- Subjects
INFLAMMATORY bowel diseases; INTESTINAL diseases; CROHN'S disease; GENETIC databases
- Publication
Journal of Clinical Immunology, 2020, Vol 40, Issue 1, p245
- ISSN
0271-9142
- Publication type
Letter
- DOI
10.1007/s10875-019-00726-0