Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease.

ABSTRACT:

Objectives

Inflammatory bowel disease (IBD) is heritable, but a total of 163 variants commonly implicated in IBD pathogenesis account for only 25% of the heritability. Rare, highly penetrant genetic variants may also explain mendelian forms of IBD and some of the missing heritability. To test the hypothesis that rare loss-of-function mutations can be causative, we performed whole exome sequencing (WES) on 5 members of a 2-generation family of European ancestry presenting with an early-onset and atypical form of IBD.

Methods

WES was performed for all of the 5 family members; the mother and 3 male offspring were affected, whereas the father was unaffected. Mapping, annotation, and filtering criteria were used to reduce candidate variants. For functional testing we performed fo

SUBMITTER: Okou DT 

PROVIDER: S-EPMC4277865 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature