PERCC1 and congenital diarrhea 5 with tufting enteropathy: Whole genome sequencing later identified a novel point mutation in PERCC1 (proline and glutamate-rich protein with a coiled coil domain 1), a previously unannotated reading frame flanking the regulatory sequence of the "intestine-critical region", linked to enteroendocrine cell function and congenital enteropathy.