Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.

ABSTRACT: Congenital diarrheas and enteropathies (CODEs) constitute a heterogeneous group of individually rare disorders manifesting with infantile-onset chronic diarrhea. Genomic deletions in chromosome 16, encompassing a sequence termed the 'intestine-critical region (ICR)', were recently identified as the cause of an autosomal recessive congenital enteropathy. The regulatory sequence within the ICR is flanked by an unannotated open reading frame termed PERCC1, which plays a role in enteroendocrine cell (EEC) function. We investigated two unrelated children with idiopathic congenital diarrhea requiring home parenteral nutrition attending the Irish Intestinal Failure Program. Currently 12 and 19-years old, these Irish male patients presented with watery diarrhea and hypernatremic dehydration in inf

SUBMITTER: Marek-Yagel D 

PROVIDER: S-EPMC10182134 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature