Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families.

ABSTRACT: Tufting enteropathy (TE) is caused by recessive EPCAM mutations, and is characterized by intractable diarrhea of congenital onset and disorganization of enterocytes. TE generally requires parenteral nutrition (PN) during childhood or intestinal bowel transplantation. We report three unrelated families with six children with TE. We highlight the high rate of disease-related mortality. We observe adequate weight gain with PN, but low to normal and stunted body length, supporting the recent notion that a short stature might be intrinsic to TE. The diagnosis of TE in the index patients from each family was delayed for months to years, even when clinical data, duodenal biopsies, or exome sequencing data were obtained early on. We identified three novel pathogenic EPCAM variants: a deletion of e

SUBMITTER: Ayyıldız Civan H 

PROVIDER: S-EPMC8232273 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature