Percc1-Associated Congenital Diarrhea and Enteropathy: Description of a Novel Variant

Abstract

Persistent diarrhea that occurs in the first weeks of life and is caused by monogenic defects are defined as congenital diarrhea and enteropathies (CoDEs). The PERCC1 (proline and glutamate-rich protein with coiled-coil domain 1) gene which has a role in development of enteroendocrine cells, was recently found to be associated with CoDEs. We report the clinical, laboratory, and histopathologic findings of CoDE caused by a novel, homozygous variant (c.337 del) in the second exon of PERCC1 gene in an infant diagnosed at 2 months postnatally. The unique findings in our case were the location and/or distribution abnormality of enteroendocrine cells and exocrine pancreatic insufficiency. We can conclude that these distinctive features may expand the spectrum of PERCC1-associated CoDE.