Exome sequencing findings in children with annular pancreas.

ABSTRACT:

Background

Annular pancreas (AP) is a congenital defect of unknown cause in which the pancreas encircles the duodenum. Theories include abnormal migration and rotation of the ventral bud, persistence of ectopic pancreatic tissue, and inappropriate fusion of the ventral and dorsal buds before rotation. The few reported familial cases suggest a genetic contribution.

Methods

We conducted exome sequencing in 115 affected infants from the California birth defects registry.

Results

Seven cases had a single heterozygous missense variant in IQGAP1, five of them with CADD scores >20; seven other infants had a single heterozygous missense variant in NRCAM, five of them with CADD scores >20. We also looked at genes previously associated with AP and found two rare heterozygous mi

SUBMITTER: Pitsava G 

PROVIDER: S-EPMC10568395 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature