Maturity-onset diabetes of the Young, Type8, with exocrine dysfunction, MODY8

Alternative name(s) : Diabetes and pancreatic exocrine dysfunction\; DPED, Diabetes-pancreatic exocrine dysfunction syndrome, CEL-MODY, MODY8

Gene_locus : human-CEL

Mutation : 8 mutations 3repeatVNTR_human-CEL V596CfsX695_human-CEL C563fsX673_human-CEL Ex.8-11del_human-CEL Ex.10-11del_human-CEL C277F_human-CEL G729_T739del_human-CEL HYB1_human-CEL

OMIM : 609812 , 114840

Comment

Carboxyl-Ester Lipase Maturity-Onset Diabetes of the Young (CEL-MODY). By genomewide screen in one of their families with diabetes and exocrine pancreatic dysfunction, Raeder et al. (2006) linked diabetes to 9q34 (maximum lod score 5.07). Using fecal elastase deficiency as a marker of exocrine pancreatic dysfunction, they refined the critical region to 1.16 Mb (maximum lod score 11.6). The linkage candidate region contained 24 genes, of which only CEL (114840) was known to be both highly and predominantly expressed in the pancreas. 30 PubMed Neighbors. In each of the 2 families with autosomal dominantly inherited diabetes and exocrine pancreas dysfunction described by them, Raeder et al. (2006) demonstrated a different single-base deletion causing frameshift in the variable number of tandem repeats (VNTR) of the gene encoding carboxyl-ester lipase (CEL\; 114840). They also provided data supporting a polygenic role for this region, as common insertions were associated with exocrine dysfunction in an additional group of diabetic subjects. A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis in some populations