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Disease Report for: 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
Mutation|8 mutations (e.g. : 3repeatVNTR_human-CEL, C277F_human-CEL, C563fsX673_human-CEL... more)
OMIM: |609812, 114840

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

    Title: Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes
    Wu H, Shu M, Liu C, Zhao W, Li Q, Song Y, Zhang T, Chen X, Shi Y and Xu C <3 more author(s)>
    Ref: BMJ Open Diabetes Res Care, 11:, 2023 : PubMed


    Title: Abnormal exocrine-endocrine cell cross-talk promotes beta-cell dysfunction and loss in MODY8
    Kahraman S, Dirice E, Basile G, Diegisser D, Alam J, Johansson BB, Gupta MK, Hu J, Huang L and Kulkarni RN <5 more author(s)>
    Ref: Nat Metab, 4:76, 2022 : PubMed


    Title: Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes
    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 : PubMed


    Title: Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: How to correctly identify MODY8 cases
    El Jellas K, Dusatkova P, Haldorsen IS, Molnes J, Tjora E, Johansson BB, Fjeld K, Johansson S, Pruhova S and Molven A <3 more author(s)>
    Ref: J Clinical Endocrinology Metab, :, 2021 : PubMed


    Title: Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding
    Cassidy BM, Zino S, Fjeld K, Molven A, Lowe ME, Xiao X
    Ref: Hum Mutat, 41:1967, 2020 : PubMed


    Title: Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells
    Dalva M, Lavik IK, El Jellas K, Gravdal A, Lugea A, Pandol SJ, Njolstad PR, Waldron RT, Fjeld K and Molven A <1 more author(s)>
    Ref: Cells, 9:244, 2020 : PubMed


    Title: The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis
    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 : PubMed


    Title: Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer
    Dalva M, El Jellas K, Steine SJ, Johansson BB, Ringdal M, Torsvik J, Immervoll H, Hoem D, Laemmerhirt F and Molven A <6 more author(s)>
    Ref: Pancreatology, 17:83, 2017 : PubMed


    Title: Branched Fatty Acid Esters of Hydroxy Fatty Acids Are Preferred Substrates of the MODY8 Protein Carboxyl Ester Lipase
    Kolar MJ, Kamat SS, Parsons WH, Homan EA, Maher T, Peroni OD, Syed I, Fjeld K, Molven A and Saghatelian A <2 more author(s)>
    Ref: Biochemistry, 55:4636, 2016 : PubMed


    Title: No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations
    Zou WB, Boulling A, Masamune A, Issarapu P, Masson E, Wu H, Sun XT, Hu LH, Zhou DZ and Liao Z <16 more author(s)>
    Ref: Gastroenterology, 150:1558, 2016 : PubMed


    Title: A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis
    Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E and Molven A <19 more author(s)>
    Ref: Nat Genet, 47:518, 2015 : PubMed


    Title: The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis
    Ragvin A, Fjeld K, Weiss FU, Torsvik J, Aghdassi A, Mayerle J, Simon P, Njolstad PR, Lerch MM and Molven A <1 more author(s)>
    Ref: Pancreatology, 13:29, 2013 : PubMed


    Title: Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes
    Torsvik J, Johansson S, Johansen A, Ek J, Minton J, Raeder H, Ellard S, Hattersley A, Pedersen O and Njolstad PR <2 more author(s)>
    Ref: Hum Genet, 127:55, 2010 : PubMed


    Title: Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
    Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L and Njolstad PR <6 more author(s)>
    Ref: Nat Genet, 38:54, 2006 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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