Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes

Diabetic Medicine

Volumn 26, Issue 10, 2009, Pages 1070-1074

  Rubio Cabezas, O ^a,b,c   Edghill, E L ^c   Argente, J ^a,b,d   Hattersley, A T ^c  

^a HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c PENINSULA MEDICAL SCHOOL   (United Kingdom)

^d Instituto de Salud Carlos III   (Spain)

Author keywords

Idiopathic diabetes; INS; Insulin gene; Monogenic diabetes; Type 1b diabetes

Indexed keywords

CELL ANTIBODY; GLUTAMATE DECARBOXYLASE ANTIBODY; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULINOMA ASSOCIATED ANTIGEN 2 ANTIBODY; PANCREAS ISLET CELL ANTIBODY; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE MUTATION; GLYCEMIC CONTROL; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HYPERGLYCEMIA; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; KETOACIDOSIS; MAJOR CLINICAL STUDY; MALE; MATURITY ONSET DIABETES MELLITUS; MONOGENIC DIABETES; MONOGENIC DISORDER; PRESCHOOL CHILD; SCHOOL CHILD;

ADOLESCENT; ANTIBODIES; AUTOANTIBODIES; BLOOD GLUCOSE; CHILD; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 1; FEMALE; GENETIC VARIATION; HEMOGLOBIN A, GLYCOSYLATED; HUMANS; INFANT; INSULIN; MALE;

EID: 70349490955     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/j.1464-5491.2009.02812.x     Document Type: Article

References (18)

1. American Diabetes Association. Diagnosis and classification of diabetes mellitus. Diabetes Care 2009 32 : S62 S67.
2. Yamada S, Nishigori H, Onda H, Utsugi T, Yanagawa T, Maruyama T et al. Identification of mutations in the hepatocyte nuclear factor (HNF)-1α gene in Japanese subjects with IDDM. Diabetes 1997 46 : 1643 1647. (Pubitemid 27411243)
3. Møller AM, Dalgaard LT, Pociot F, Nerup J, Hansen T, Pedersen O. Mutations in the hepatocyte nuclear factor-1α gene in Caucasian families originally classified as having Type I diabetes. Diabetologia 1998 41 : 1528 1531.
4. Kawasaki E, Sera Y, Yamakawa K, Abe T, Ozaki M, Uotani S et al. Identification and functional analysis of mutations in the hepatocyte nuclear factor-1α gene in anti-islet autoantibody-negative Japanese patients with type 1 diabetes. J Clin Endocrinol Metab 2000 85 : 331 335.
5. Lambert AP, Ellard S, Allen LI, Gallen IW, Gillespie KM, Bingley PJ et al. Identifying hepatic nuclear factor 1α mutations in children and young adults with a clinical diagnosis of type 1 diabetes. Diabetes Care 2003 26 : 333 337.
6. Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM et al Norwegian Childhood Diabetes Study Group. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes 2008 57 : 1131 1135.
7. Bonfanti R, Colombo C, Nocerino V, Massa O, Lampasona V, Iafusco D et al. Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies. Diabetes Care 2009 32 : 123 125.
8. Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A et al Neonatal Diabetes International Collaborative Group. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci USA 2007 104 : 15040 15044.
9. Freeman JV, Cole TJ, Chinn S, Jones PR, White EM, Preece MA. Cross-sectional stature and weight reference curves for the UK, 1990. Arch Dis Child 1995 73 : 17 24.
10. Hagopian WA, Sanjeevi CB, Kockum I, Landin-Olsson M, Karlsen AE, Sundkvist G et al. Glutamate decarboxylase-, insulin-, and islet cell-antibodies and HLA typing to detect diabetes in a general population-based study of Swedish children. J Clin Invest 1995 95 : 1505 1511.
11. Bingley PJ, Bonifacio E, Williams AJK, Genovese S, Bottazzo GF, Gale EAM. Prediction on IDDM in the general population; strategies based on combinations of autoantibody markers. Diabetes 1997 46 : 1701 1710.
12. Wang J, Miao D, Babu S, Yu J, Barker J, Klingensmith G et al. Prevalence of autoantibody-negative diabetes is not rare at all ages and increases with older age and obesity. J Clin Endocrinol Metab 2007 92 : 88 92.
13. Mortensen H, Poerksen S, Nielsen L, Pfleger C, Schloot N, Holl R et al. Preservation of B-cell Function and Improved Glycemic Control in Children and Adolescents with Autoantibody-Negative Type 1 Diabetes. Results from the Hvidore Study Group. Proceedings of the ADA 66th Scientific Session; 9-13 June 2006. Washington, DC. Stanford : HighWire Press, 2006.
14. Borg H, Marcus C, Sjöblad S, Fernlund P, Sundkvist G. Islet cell antibody frequency differs from that of glutamic acid decarboxylase antibodies/IA2 antibodies after diagnosis of diabetes. Acta Paediatr 2000 89 : 46 51.
15. Imagawa A, Hanafusa T, Tamura S, Moriwaki M, Itoh N, Yamamoto K et al. Pancreatic biopsy as a procedure for detecting in situ autoimmune phenomena in type 1 diabetes: close correlation between serological markers and histological evidence of cellular autoimmunity. Diabetes 2001 50 : 1269 1273.
16. Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B et al Neonatal Diabetes International Collaborative Group. Insulin mutation screening in 1044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008 57 : 1034 1042.
17. Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V et al French ND (Neonatal Diabetes) Study Group 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.
18. Colombo C, Porzio O, Liu M, Massa O, Vasta M, Salardi S et al. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. J Clin Invest 2008 118 : 2148 2156.