Different effects of frameshift mutations occurring in the repeat region of the pancreatic enzyme carboxyl ester lipase (CEL)

Objectives We have previously identified disease-associated mutations in the last exon of the CEL gene, localized in a variable number of tandem repeats (VNTR) region. Two single-base deletions (DEL1, DEL4) lead to frameshifts that predict a new, long C-terminus of the CEL protein, and deletion carriers suffer from exocrine pancreatic dysfunction and diabetes. Moreover, single-base insertions (denoted INS) are common in the CEL VNTR and result in frameshifts that truncate the protein after only five new amino acids.

Source: Pancreatology - June 1, 2018 Category: Gastroenterology Authors: Anny Gravdal, Ranveig Seim Brekke, Khadija El Jellas, Xunjun Xiao, Mark E. Lowe, Dominique Lombardo, Eric Mas, Bente Berg Johansson, Karianne Fjeld, Anders Molven Tags: 4. Genetics in pancreatic diseases Source Type: research