Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing.

ABSTRACT: Diverticulitis is a chronic disease of the colon in which diverticuli, or outpouching through the colonic wall, become inflamed. Although recent observations suggest that genetic factors may play a significant role in diverticulitis, few genes have yet been implicated in disease pathogenesis and familial cases are uncommon. Here, we report results of whole exome sequencing performed on members from a single multi-generational family with early onset diverticulitis in order to identify a genetic component of the disease. We identified a rare single nucleotide variant in the laminin β 4 gene (LAMB4) that segregated with disease in a dominant pattern and causes a damaging missense substitution (D435N). Targeted sequencing of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis pati

SUBMITTER: Coble JL 

PROVIDER: S-EPMC6251658 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature