Diabetes caused by insulin gene (INS) deletion: Clinical characteristics of homozygous and heterozygous individuals

European Journal of Endocrinology

Volumn 165, Issue 2, 2011, Pages 255-260

  Raile, Klemens ^a,b   O'Connell, Michele ^c   Galler, Angela ^a   Werther, George ^c   Kühnen, Peter ^a   Krude, Heiko ^a   Blankenstein, Oliver ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

C PEPTIDE; ORAL ANTIDIABETIC AGENT; PREPROINSULIN; INSULIN;

ADULT; AGED; ARTICLE; BIRTH WEIGHT; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENE DELETION; GENE LOCATION; GENE LOSS; GENE MAPPING; GENOTYPE; HETEROZYGOTE; HIGH RISK POPULATION; HOMOZYGOTE; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MALE; MOLECULAR PATHOLOGY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; CHILD; DIABETES MELLITUS; FAMILY; GENE; HETEROZYGOSITY; HOMOZYGOSITY; INS GENE; MATURITY ONSET DIABETES MELLITUS; PERMANENT NEONATAL DIABETES; POLYMERASE CHAIN REACTION; RISK ASSESSMENT; ADOLESCENT; CASE REPORT; GENETICS; MIDDLE AGED; NON INSULIN DEPENDENT DIABETES MELLITUS; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CONSANGUINITY; DIABETES MELLITUS, TYPE 2; FAMILY; FEMALE; GENE DELETION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INSULIN; MALE; MIDDLE AGED; PEDIGREE; YOUNG ADULT;

EID: 79960198707     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0208     Document Type: Article

References (20)

1. Ellard S, Bellanne-Chantelot C & Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008 51 546-553. (doi:10.1007/s00125-008-0942-y)
2. Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM & Hattersley AT. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 2003 362 1275-1281. (doi:10.1016/S0140-6736(03)14571-0)
3. Omori S, Tanaka Y, Takahashi A, Hirose H, Kashiwagi A, Kaku K, Kawamori R, Nakamura Y & Maeda S. Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Diabetes 2008 57 791-795. (doi:10.2337/db07-0979)
4. Cho YM, Kim TH, Lim S, Choi SH, Shin HD, Lee HK, Park KS & Jang HC. Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population. Diabetologia 2009 52 253-261. (doi:10.1007/s00125-008-1196-4)
5. Chistiakov DA, Potapov VA, Khodirev DC, Shamkhalova MS, Shestakova MV & Nosikov VV. Genetic variations in the pancreatic ATP-sensitive potassium channel, beta-cell dysfunction, and susceptibility to type 2 diabetes. Acta Diabetologica 2009 46 43-49. (doi:10.1007/s00592-008-0056-5)
6. Bonnycastle LL, Willer CJ, Conneely KN, Jackson AU, Burrill CP, Watanabe RM, Chines PS, Narisu N, Scott LJ, Enloe ST, Swift AJ, Duren WL, Stringham HM, Erdos MR, Riebow NL, Buchanan TA, Valle TT, Tuomilehto J, Bergman RN, Mohlke KL, Boehnke M & Collins FS. Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns. Diabetes 2006 55 2534-2540. (doi:10.2337/db06-0178)
7. Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Bostrom KB, Walker M, Hitman G, Hattersley AT, McCarthy MI, Ardlie KG, Hirschhorn JN, Daly MJ, Frayling TM, Groop L & Altshuler D. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes 2007 56 685-693. (doi:10.2337/db06-0202)
8. Polak M, Dechaume A, Cave H, Nimri R, Crosnier H, Sulmont V, de Kerdanet M, Scharfmann R, Lebenthal Y, Froguel P & Vaxillaire M. Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. Diabetes 2008 57 1115-1119. (doi:10.2337/db07-1358)
9. Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH & Bell GI. Insulin gene mutations as a cause of permanent neonatal diabetes. PNAS 2007 104 15040-15044. (doi:10.1073/pnas.0707291104)
10. Molven A, Ringdal M, Nordbo AM, Raeder H, Stoy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Sovik O, Bell GI & Njolstad PR. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes 2008 57 1131-1135. (doi:10.2337/db07-1467)
11. Meur G, Simon A, Harun N, Virally M, Dechaume A, Bonnefond A, Fetita S, Tarasov AI, Guillausseau PJ, Boesgaard TW, Pedersen O, Hansen T, Polak M, Gautier JF, Froguel P, Rutter GA & Vaxillaire M. Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention. Diabetes 2010 59 653-661. (doi:10.2337/db09-1091)
12. Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, Del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M, Klupa T, Kolouskova S, Mohsin F, Perlman K, Sumnik Z, Rial JM, Ugarte E, Vasanthi T, Johnstone K, Flanagan SE, Martinez R, Castano C, Patch AM, Fernandez-Rebollo E, Raile K, Morgan N, Harries LW, Castano L, Ellard S, Ferrer J, Perez de Nanclares G & Hattersley AT. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. PNAS 2010 107 3105-3110. (doi:10.1073/pnas.0910533107)
13. Leroux L, Desbois P, Lamotte L, Duvillie B, Cordonnier N, Jackerott M, Jami J, Bucchini D & Joshi RL. Compensatory responses in mice carrying a null mutation for Ins1 or Ins2. Diabetes 2001 50 (Suppl 1) S150-S153. (doi:10.2337/diabetes.50.2007.S150)
14. Liu M, Haataja L, Wright J, Wickramasinghe NP, Hua QX, Phillips NF, Barbetti F, Weiss MA & Arvan P. Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport. PLoS ONE 2010 5 e13333. (doi:10.1371/journal.pone.0013333)
15. Liu M, Hodish I, Haataja L, Lara-Lemus R, Rajpal G, Wright J & Arvan P. Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth. Trends in Endocrinology and Metabolism 2010 21 652-659. (doi:10.1016/j.tem.2009.11.004)
16. Andrali SS, Sampley ML, Vanderford NL & Ozcan S. Glucose regulation of insulin gene expression in pancreatic beta-cells. Biochemical Journal 2008 415 1-10. (doi:10.1042/BJ20081029)
17. Skoglund G, Hussain MA & Holz GG. Glucagon-like peptide 1 stimulates insulin gene promoter activity by protein kinase A-independent activation of the rat insulin I gene cAMP response element. Diabetes 2000 49 1156-1164. (doi:10.2337/diabetes.49.7.1156)
18. Hay CW & Docherty K. Comparative analysis of insulin gene promoters: implications for diabetes research. Diabetes 2006 55 3201-3213. (doi:10.2337/db06-0788)
19. Lew A, Rutter WJ & Kennedy GC. Unusual DNA structure of the diabetes susceptibility locus IDDM2 and its effect on transcription by the insulin promoter factor Pur-1/MAZ. PNAS 2000 97 12508-12512. (doi:10.1073/pnas.97.23. 12508)
20. Matsuda M & DeFronzo RA. Insulin sensitivity indices obtained from oral glucose tolerance testing: comparison with the euglycemic insulin clamp. Diabetes Care 1999 22 1462-1470. (doi:10.2337/diacare.22.9.1462)