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

References (15)

Title : Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes - Sun_2023_Endocrine__
Author(s) : Sun S , Gong S , Li M , Wang X , Wang F , Cai X , Liu W , Luo Y , Zhang S , Zhang R , Zhou L , Zhu Y , Ma Y , Ren Q , Zhang X , Chen J , Chen L , Wu J , Gao L , Zhou X , Li Y , Zhong L , Han X , Ji L
Ref : Endocrine , : , 2023
PubMedID: 37726640

Title : Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes - Wu_2023_BMJ.Open.Diabetes.Res.Care_11_e003127
Author(s) : Wu H , Shu M , Liu C , Zhao W , Li Q , Song Y , Zhang T , Chen X , Shi Y , Shi P , Fang L , Wang R , Xu C
Ref : BMJ Open Diabetes Res Care , 11 : , 2023
PubMedID: 36634979
Gene_locus related to this paper: human-CEL

Title : Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes - Kondoh_2022_Tohoku.J.Exp.Med_256_37
Author(s) : Kondoh T , Nakajima Y , Yokoi K , Matsumoto Y , Inagaki H , Kato T , Ito T , Yoshikawa T , Kurahashi H
Ref : Tohoku J Exp Med , 256 :37 , 2022
PubMedID: 35082198
Gene_locus related to this paper: human-CEL

Title : Abnormal exocrine-endocrine cell cross-talk promotes beta-cell dysfunction and loss in MODY8 - Kahraman_2022_Nat.Metab_4_76
Author(s) : Kahraman S , Dirice E , Basile G , Diegisser D , Alam J , Johansson BB , Gupta MK , Hu J , Huang L , Soh CL , Huangfu D , Muthuswamy SK , Raeder H , Molven A , Kulkarni RN
Ref : Nat Metab , 4 :76 , 2022
PubMedID: 35058633
Gene_locus related to this paper: human-CEL

Title : Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: How to correctly identify MODY8 cases - El Jellas_2021_J.Clin.Endocrinol.Metab__
Author(s) : El Jellas K , Dusatkova P , Haldorsen IS , Molnes J , Tjora E , Johansson BB , Fjeld K , Johansson S , Pruhova S , Groop L , Lohr JM , Njolstad PR , Molven A
Ref : J Clinical Endocrinology Metab , : , 2021
PubMedID: 34850019
Gene_locus related to this paper: human-CEL

Title : Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells - Dalva_2020_Cells_9_244
Author(s) : Dalva M , Lavik IK , El Jellas K , Gravdal A , Lugea A , Pandol SJ , Njolstad PR , Waldron RT , Fjeld K , Johansson BB , Molven A
Ref : Cells , 9 :244 , 2020
PubMedID: 31963687
Gene_locus related to this paper: human-CEL

Title : Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding - Cassidy_2020_Hum.Mutat_41_1967
Author(s) : Cassidy BM , Zino S , Fjeld K , Molven A , Lowe ME , Xiao X
Ref : Hum Mutat , 41 :1967 , 2020
PubMedID: 32906201
Gene_locus related to this paper: human-CEL

Title : The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis - Oracz_2019_Pancreatology_19_531
Author(s) : Oracz G , Kujko AA , Fjeld K , Wertheim-Tysarowska K , Adamus-Bialek W , Steine SJ , Koziel D , Gluszek S , Molven A , Rygiel AM
Ref : Pancreatology , 19 :531 , 2019
PubMedID: 31036489

Title : Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer - Dalva_2017_Pancreatology_17_83
Author(s) : Dalva M , El Jellas K , Steine SJ , Johansson BB , Ringdal M , Torsvik J , Immervoll H , Hoem D , Laemmerhirt F , Simon P , Lerch MM , Johansson S , Njolstad PR , Weiss FU , Fjeld K , Molven A
Ref : Pancreatology , 17 :83 , 2017
PubMedID: 27773618
Gene_locus related to this paper: human-CEL

Title : Branched Fatty Acid Esters of Hydroxy Fatty Acids Are Preferred Substrates of the MODY8 Protein Carboxyl Ester Lipase - Kolar_2016_Biochemistry_55_4636
Author(s) : Kolar MJ , Kamat SS , Parsons WH , Homan EA , Maher T , Peroni OD , Syed I , Fjeld K , Molven A , Kahn BB , Cravatt BF , Saghatelian A
Ref : Biochemistry , 55 :4636 , 2016
PubMedID: 27509211
Gene_locus related to this paper: human-CEL

Title : No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations - Zou_2016_Gastroenterology_150_1558
Author(s) : Zou WB , Boulling A , Masamune A , Issarapu P , Masson E , Wu H , Sun XT , Hu LH , Zhou DZ , He L , Fichou Y , Nakano E , Hamada S , Kakuta Y , Kume K , Isayama H , Paliwal S , Mani KR , Bhaskar S , Cooper DN , Ferec C , Shimosegawa T , Chandak GR , Chen JM , Li ZS , Liao Z
Ref : Gastroenterology , 150 :1558 , 2016
PubMedID: 26946345

Title : A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis - Fjeld_2015_Nat.Genet_47_518
Author(s) : Fjeld K , Weiss FU , Lasher D , Rosendahl J , Chen JM , Johansson BB , Kirsten H , Ruffert C , Masson E , Steine SJ , Bugert P , Cnop M , Grutzmann R , Mayerle J , Mossner J , Ringdal M , Schulz HU , Sendler M , Simon P , Sztromwasser P , Torsvik J , Scholz M , Tjora E , Ferec C , Witt H , Lerch MM , Njolstad PR , Johansson S , Molven A
Ref : Nat Genet , 47 :518 , 2015
PubMedID: 25774637

Title : The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis - Ragvin_2013_Pancreatology_13_29
Author(s) : Ragvin A , Fjeld K , Weiss FU , Torsvik J , Aghdassi A , Mayerle J , Simon P , Njolstad PR , Lerch MM , Johansson S , Molven A
Ref : Pancreatology , 13 :29 , 2013
PubMedID: 23395566
Gene_locus related to this paper: human-CEL

Title : Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes - Torsvik_2010_Hum.Genet_127_55
Author(s) : Torsvik J , Johansson S , Johansen A , Ek J , Minton J , Raeder H , Ellard S , Hattersley A , Pedersen O , Hansen T , Molven A , Njolstad PR
Ref : Hum Genet , 127 :55 , 2010
PubMedID: 19760265
Gene_locus related to this paper: human-CEL

Title : Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. - Raeder_2006_Nat.Genet_38_54
Author(s) : Raeder H , Johansson S , Holm PI , Haldorsen IS , Mas E , Sbarra V , Nermoen I , Eide SA , Grevle L , Bjorkhaug L , Sagen JV , Aksnes L , Svik O , Lombardo D , Molven A , Njolstad PR
Ref : Nat Genet , 38 :54 , 2006
PubMedID: 16369531
Gene_locus related to this paper: human-CEL