The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

Diabetic Medicine

Volumn 24, Issue 7, 2007, Pages 707-713

  Rica, I ^a   Luzuriaga, C ^b   Perez De Nanclares G ^a,q   Estalella, I ^a   Aragones A ^c   Barrio, R ^d   Bilbao, J R ^a,q   Carles C ^e   Fernandez C ^f   Fernandez J M ^g   Fernandez Rebollo E ^a   Gastaldo, E ^h   Giralt, P ⁱ   Gomez Vida, J M ^j   Gutierrez A ^k   Lopez Siguero J P ^l   Martinez Aedo M J ^l   Munoz M ^m   Prieto, J ⁿ   Rodrigo, J ^o   Vargas, F ^p   Castano, L ^a,q   more..

^a HOSPITAL DE CRUCES   (Spain)

^b HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^c HOSPITAL VIRGEN DE LA SALUD   (Spain)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e HOSPITAL UNIVERSITARIO LA FE   (Spain)

^f HOSPITAL DE BASURTO   (Spain)

^g HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^h HOSPITAL DE LA RIBERA   (Spain)

ⁱ Servicio de Medicina Interna Enfermedades Infecciosas   (Spain)

^j Hospital General Basico Santa Ana de Motril   (Spain)

^k HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^l HOSPITAL MATERNO INFANTIL   (Spain)

^m HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

ⁿ HOSPITAL DE CABUEÑES   (Spain)

^o HOSPITAL UNIVERSITARIO DE BURGOS   (Spain)

^p HOSPITAL GENERAL UNIVERSITARIO DE ELCHE   (Spain)

^q UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

more..

Author keywords

Genetics; Genotype phenotype correlation; Neonatal diabetes

Indexed keywords

INSULIN;

ADOLESCENT; ARTICLE; BIRTH WEIGHT; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CORRELATION ANALYSIS; DIABETES MELLITUS; FEMALE; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; GENOTYPE; GLUCOSE METABOLISM; HUMAN; IMPAIRED GLUCOSE TOLERANCE; INFANT; INSULIN TREATMENT; MALE; PHENOTYPE; QUESTIONNAIRE;

DIABETES MELLITUS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERGLYCEMIA; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RISK FACTORS; SPAIN;

EID: 34347350250     PISSN: 07423071     EISSN: 14645491     Source Type: Journal    
DOI: 10.1111/j.1464-5491.2007.02140.x     Document Type: Article

References (36)

1. Shield JP. Neonatal diabetes: new insights into aetiology and implications. Horm Res 2000 53 : 7 11.
2. Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS et al. Activating mutations in the gene encoding the ATP-sensitive potassiumm-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004 350 : 1838 1849.
3. Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2. Patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004 53 : 2713 2718.
4. Vaxillaire M, Populaire C, Busiah K, Cave H, Gloyn AL, Hattersley AT et al. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 2004 53 : 2719 2722.
5. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet 1997 15 : 106 110.
6. Schwitzgebel VM, Mamin A, Brun T, Ritz-Laser B, Zaiko M, Maret A et al. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. J Clin Endocrinol Metab 2003 88 : 4398 4406.
7. Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet 2001 27 : 18 20.
8. Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 2001 344 : 1588 1592.
9. Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP. Transient neonatal diabetes. Widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000 49 : 1359 1366.
10. Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER et al. Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet 2005 14 : 925 934.
11. Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B et al. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet 2006 15 : 1793 1800.
12. Babenko AP, Polak M, Cavé H, Busiah K, Czernichow P, Scharfmann R et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006 355 : 456 466.
13. Clement JP 4th, Kunjilwar K, Gonzalez G, Schwanstecher M, Panten U, Aguilar-Bryan L et al. Association and stoichiometry of KATP channel subunits. Neuron 1997 18 : 827 838.
14. Sakura H, Ammala C, Smith PA, Gribble FM, Ashcroft FM. Cloning and functional expression of the cDNA encoding a novel ATP-sensitive potassium channel expressed in pancreatic β-cells, brain, heart and skeletal muscle. FEBS Lett 1995 377 : 338 344.
15. Ashcroft FM, Rorsman P. Electrophysiology of the pancreatic β-cell. Prog Biophys Mol Biol 1989 54 : 87 143.
16. Ashcroft FM, Rorsman P. Type-2 diabetes mellitus: not quite exciting enough? Hum Mol Genet 2004 13 : R21 R31.
17. Ashcroft FM. ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest 2005 115 : 2047 2058.
18. Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ. Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev 2004 84 : 239 275.
19. Hattersley AT, Ashcroft FM. Activating mutations in Kir6.2 and neonatal diabetes. New clinical syndromes, new scientific insights and new therapy. Diabetes 2005 54 : 2503 2513.
20. Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM. Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci USA 2004 101 : 17539 17544.
21. Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom MS et al. A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep 2005 6 : 470 475.
22. Tammaro P, Girard C, Molnes J, Njolstad PR, Ashcroft FM. Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO J 2005 24 : 2318 2330.
23. Proks P, Girard C, Ashcroft FM. Enhanced activation by MgATP contributes significantly to the functional effects of KCNJ11 mutations causing neonatal diabetes. Hum Mol Genet 2005 14 : 2717 2726.
24. Gribble FM, Reimann F. Sulphonylurea action revisited: the post-cloning era. Diabetologia 2003 46 : 875 891.
25. Delgado Beltrán P, Melchor Marcos JC, Rodríguez- Alarcón Gómez J, Linares Uribe A, Fernández-Llebrez del Rey L, Barbazán Cortés MJ et al. Curvas de desarrollo fetal de los recién nacidos en el hospital de Cruces (Bizkaia). An Esp Pediatr 1996 44 : 50 59.
26. Stoffel M, Froguel P, Takeda J, Zouali H, Vionnet N, Nishi S et al. Human glucokinase gene: isolation, characterization and identification of two missense mutations linked to early-onset non-insulin-dependent. Proc Natl Acad Sci USA 1992 89 : 7698 7702.
27. Hara M, Lindner TH, Paz VP, Wang X, Iwasaki N, Ogata M et al. Mutations in the coding region of the insulin promoter factor 1 gene are not a common cause of maturity-onset diabetes of the young in Japanese subjects. Diabetes 1998 47 : 845 846.
28. Owen CJ, Jennings CE, Imrie H, Lachaux A, Bridges NA, Cheetham TD et al. Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. J Clin Endocrinol Metab 2003 88 : 6034 6039.
29. Girard C, Shimomura K, Proks P, Absalom N, Perez de Nanclares G, Castano L et al. Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes. Pflugers Archiv 2006 453 : 323 332.
30. Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia 2006 49 : 1190 1197.
31. Metz C, Cave H, Bertrand AM, Deffert C, Gueguen-Giroux B, Czernichow P et al. Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J Pediatr 2002 141 : 483 489.
32. Ciani E, Hoffmann A, Schmidt P, Journot L, Spengler D. Induction of the PAC1-R (PACAP-type 1 receptor) gene by p53 and Zac. Mol Brain Res 1999 69 : 290 294.
33. Shield JP, Temple IK, Sabin M, Mackay D, Robinson DO, Betts PR et al. An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. Arch Dis Child Fetal Neonatal Ed 2004 89 : F341 F343.
34. Temple IK, Shield JP. Transient neonatal diabetes, a disorder of imprinting. J Med Genet 2002 39 : 872 875.
35. Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, Akazawa Y et al. The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J Clin Endocrinol Metab 2005 90 : 3174 3178.
36. Pearson ER, Flechtner I, Njolstad PR, Malecki MT, Flanagan SE, Larkin B et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006 355 : 467 477.