Familial dominant diarrhea caused by an activating GUCY2C mutation is also associated with inflammatory bowel disease

ABSTRACT: BACKGROUND Familial diarrheas are mostly severe recessive diseases. Here we describe the clinical picture and dominant genetic cause of a novel disease in 32 members of a Norwegian family. The chronic diarrhea is of early onset, relatively mild, and is combined with increased susceptibility to intestinal inflammation, ileus and oesophagitis. METHODS Whole genome SNP-analysis was used to identify a single candidate locus for dominant diarrhea on chromosome 12, followed by sequencing of the GU2CY gene. This encodes guanylyl cyclase 2C, an intestinal receptor for bacterial heat-stable enterotoxins and the peptides uroguanylin and guanylin. Functional studies of a missense mutation were performed after heterologous expression of the mutant receptor in HEK293T cells. The therapeutic respo

ORGANISM(S): Homo sapiens

SUBMITTER: Torunn Fiskerstrand 

PROVIDER: E-GEOD-31260 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress