Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

ABSTRACT:

Objective

Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing.

Design

We performed whole-exome sequencing and chromosomal microarray analyses in 4 unrelated patients, followed by confirmatory Sanger sequencing of the likely disease-causing mutations in patients and in their family members, followed by functional studies.

Results

We identified novel de novo missense mutations in GUCY2C, the gene encoding receptor guanylate cyclase C (GC-C) in 4 patients with CSD. One patient dev

SUBMITTER: Muller T 

PROVIDER: S-EPMC4975829 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature