Transient neonatal diabetes mellitus type 1

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 154, Issue 3, 2010, Pages 335-342

  Mackay, Deborah J G ^a,b   Temple, I Karen ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b Wessex Imprinting Group   (Germany)

Author keywords

DNA methylation; Imprinting; Transient neonatal diabetes

Indexed keywords

DNA; GENOMIC DNA; HEPATOCYTE NUCLEAR FACTOR 1; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; POTASSIUM CHANNEL; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ZFP57; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; HYMAI, RNA; MESSENGER RNA; PLAGL1 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

BRAIN MALFORMATION; CHROMOSOME 6Q; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DEHYDRATION; DIABETIC PATIENT; DNA METHYLATION; EPIGENETICS; GENE; GENE LOCUS; GENE MUTATION; GENE OVEREXPRESSION; GENETIC DISORDER; GENETIC VARIABILITY; GENOME; GENOME IMPRINTING; HEART DISEASE; HUMAN; HYMAI GENE; HYPERGLYCEMIA; INSULIN DEPENDENT DIABETES MELLITUS; INTRAUTERINE GROWTH RETARDATION; MOLECULAR GENETICS; MONOZYGOTIC TWINS; NON INSULIN DEPENDENT DIABETES MELLITUS; PATERNALISM; PHENOTYPE; PLAGL1 GENE; PRIORITY JOURNAL; REPRODUCTION; REVIEW; TRANSIENT NEONATAL DIABETES MELLITUS TYPE 1; TWIN PREGNANCY; UNIPARENTAL DISOMY; GENE EXPRESSION; GENETICS; INFANT; NEWBORN; PHYSIOLOGY;

CELL CYCLE PROTEINS; DIABETES MELLITUS, TYPE 1; DNA METHYLATION; GENE EXPRESSION; GENOMIC IMPRINTING; HUMANS; HYPERGLYCEMIA; INFANT; INFANT, NEWBORN; PHENOTYPE; RNA, MESSENGER; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS; UNIPARENTAL DISOMY;

EID: 77955914580     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30272     Document Type: Review

References (62)

1. Abdollahi A. 2007. LOT1 (ZAC1/PLAGL1) and its family members: Mechanisms and functions. J Cell Physiol 210:16-25. (Pubitemid 44904697)
2. Abramowicz MJ, Andrien M, Dupont E, Dorchy H, Parma J, Duprez J, Ledley FD, Courtens W, Vamos E. 1994. Isodisomy of chromosome 6 in a newborn with methylmevalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest 94:418-421. (Pubitemid 24218120)
3. Abu-Amero S, Monk D, Apostolidou S, Stanier P, Moore G. 2006. Imprinted genes and their role in human fetal growth. Cytogenet Genome Res 113:262-270.
4. Amor DJ, Halliday J. 2008. A review of known imprinting syndromes and their association with assisted reproduction technologies. Hum Reprod 23:2826-2834.
5. Arima T, Wake N. 2006. Establishment of the primary imprint of the HYMAI/PLAGL1 imprint control region during oogenesis. Cytogenet Genome Res 113:247-252.
6. Arima T, Drewell RA, Oshimura M, Wake N, Surani MA. 2000. A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC. Genomics 67:248-255. (Pubitemid 30651025)
7. KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. Nucleic Acids Res 33:2650-2660.
8. Bastepe M, Jüppner H. 2005. GNAS locus and pseudohypoparathyroidism. Horm Res 63:65-74.
9. Bestor TH. 2003. Imprinting errors and developmental asymmetry. Philos Trans R Soc Lond B Biol Sci 358:1411-1415.
10. Bliek J, Verde G, Callaway J, Maas S, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi M, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis M, Larizza L, Temple IK, Mannens M, Mackay DJG, Riccio A. 2008. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 17:611-619.
11. Bliek J, Alders M, Maas SM, Oostra R-J, Mackay DJG, vd Lip K, Callaway JLA, Brooks A, van't Padje S, Westerveld A, Leschot NJ, Mannens MMAM. 2009. Lessons from BWS twins: Complex maternal and paternal hypomethylation and a common source of haematopoietic stem-cells. Eur J Hum Genet 17:611-619.
12. Boonen SE, Porksen S, Mackay DJ, Oestergaard E, Olsen B, Brondum-Nielsen K, Temple IK. 2008. Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. Eur J Hum Genet 16:453-461.
13. Christian SL, Rich BH, Loebl C, Israel J, Vasa R, Kittikamron K, Spiro R, Rosenfield R, Ledbetter DH. 1999. Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. J Pediatr 134:42-46.
14. Diatloff-Zito C, Nicole A, Marcelin G, Labit H, Marquis E, Bellanné-Chantelot C, Robert JJ. 2007. Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: New hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region. J Med Genet 44:31-37.
15. Docherty LE, Poole RL, Mattocks CJ, Lehmann A, Temple IK, Mackay DJG. 2010. Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes (TND). Diabetologia in press.
16. Edghill EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, Hattersley AT. 2006. Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: Support for a critical role of HNF-1beta in human pancreatic development. Diabet Med 23:1301-1306. (Pubitemid 44787792)
17. Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI, Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S, 2008. Insulin mutation screening in 1,044 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 57:1034-1042.
18. Eggermann T, Eggermann K, Schönherr N. 2008. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet 24:195-204.
19. Flanagan SE, Patch A-M, Mackay DJG, Edghill EL, Gloyn AL, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT. 2007. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 56:1930-1937. (Pubitemid 47025462)
20. Gardner RJ, Mackay DJG, Mungall AJ, Polychronakos C, Siebert R, Shield JPH, Temple IK, Robinson DO. 2000. An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet 9:589-596. (Pubitemid 30154017)
21. Gillessen-Kaesbach G, Demuth S, Thiele H, Theile U, Lich C, Horsthemke B. 1999. A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. Eur J Hum Genet 7:638-644. (Pubitemid 29424053)
22. Gloyn AL, Mackay DJG, Weedon MN, McCarthy MI, Walker M, Hitman G, Knight BA, Owen KR, Hattersley AT, Frayling TM. 2006. Assessment of the role of common genetic variation in the transient neonatal diabetes (TNDM) region in type 2 diabetes: A comparative genomic and tagging SNP approach. Diabetes 55:2272-2276. (Pubitemid 44743624)
23. Hales CN, Barker DJ, Clark PM, Cox LJ, Fall C, Osmond C, Winter PD. 1991. Fetal and infant growth and impaired glucose tolerance at age 64. BMJ 303:1019-1022.
24. Hall JG. 2003. Twinning. Lancet 362:735-743.
25. Hattersley AT, Tooke JE. 1999. The fetal insulin hypothesis: An alternative explanation of the association of low birthweight with diabetes and vascular disease. Lancet 353:1789-1792.
26. Hoffmann A, Ciani E, Boeckardt J, Holsboer F, Journot L, Spengler D. 2003. Transcriptional activities of the zinc finger protein Zac are differentially controlled by DNA binding. Mol Cell Biol 23:988-1003. (Pubitemid 36133516)
27. Huang SM, Schönthal AH, Stallcup MR. 2001. Enhancement of p53-dependent gene activation by the transcriptional coactivator Zac1. Oncogene 20:2134-2143.
28. Jirtle R, Skinner MK. 2007. Environmental epigenetics and disease susceptibility. Nat Rev Genet 8:253-262.
29. Kamiya M, Judson H, Okazaki Y, Kusakabe M, Muramatsu M, Takada S, Takagi N, Arima T, Wake N, Kamimura K, Satomura K, Hermann R, Bonthron DT, Hayashizaki Y. 2000. The cell cycle control gene ZAC/ PLAGL1 is imprinted - A strong candidate gene for transient neonatal diabetes. Hum Mol Genet 9:453-460.
30. Kant SG, van der Weij AM, OostdijkW, Wit JM, Robinson DO, Temple IK, Mackay DJG. 2005. Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM DMR. Hum Genet 117:298-401.
31. Kenny AP, Crimmins NA, Mackay DJ, Hopkin RJ, Bove KE, Leonis MA. 2009. Concurrent course of transient neonatal diabetes with cholestasis and paucity of interlobular bile ducts: A case report. Pediatr Dev Pathol 12:417-420.
32. Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, Frigge ML, Gylfason A, Olason PI, Gudjonsson SA, Sverrisson S, Stacey SN, Sigurgeirsson B, Benediktsdottir KR, Sigurdsson H, Jonsson T, Benediktsson R, Olafsson JH, Johannsson OT, Hreidarsson AB, Sigurdsson G, DIAGRAM Consortium, Ferguson-Smith AC, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K, 2009. Parental origin of sequence variants associated with complex diseases. Nature 462:868-874.
33. Laborie LB, Mackay DJ, Temple IK, Molven A, Søvik O, Njølstad PR. 2010. DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins. Eur J Pediatr 169:207-213.
34. Li X, Ito M, Zhou F, Youngson N, Zuo X, Leder P, Ferguson-Smith AC. 2008. A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints. Dev Cell 15:547-557.
35. Lindsay RS, Kobes S, Knowler WC, Bennett PH, Hanson RL. 2001. Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of type 2 diabetes and BMI in Pima Indians. Diabetes 50:2850-2857. (Pubitemid 33733138)
36. Liu PY, Chan JY, Lin HC, Wang SL, Liu ST, Ho CL, Chang LC, Huang SM. 2008. Modulation of the cyclin-dependent kinase inhibitor p21(WAF1/Cip1) gene by Zac1 through the antagonistic regulators p53 and histone deacetylase 1 in HeLa Cells. Mol Cancer Res 6:1204-12144.
37. Loh YH, Zhang W, Chen X, George J, Ng HH. 2007. Jmjd1a and Jmjd2c histone H3 Lys 9 demethylases regulate self-renewal in embryonic stem cells. Genes Dev 21:2545-2557. (Pubitemid 47607666)
38. Ma D, Shield JP, Dean W, Leclerc I, Knauf C, Burcelin RR, Rutter GA, Kelsey G. 2004. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. J Clin Invest 114:339-348. (Pubitemid 39071606)
39. Mackay DJ, Coupe AM, Shield JP, Storr JN, Temple IK, Robinson DO. 2002. Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Hum Genet 110:139-144.
40. Mackay DJG, Boonen SE, Clayton-Smith J, Goodship J, Hahnemann JMD, Kant SG, Njølstad PR, Robin NH, Robinson DO, Siebert R, Shield JPH, White HE, Temple IK. 2006. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet 120:262-269. (Pubitemid 44204015)
41. Mackay DJG, Callaway JLA, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JMD, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S, Hattersley AT, Robinson DO, Temple IK. 2008. Hypomethylation of multiple imprinted loci in patients with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 40:949-951.
42. Marquis E, Robert JJ, Bouvattier C, Bellanné-Chantelot C, Junien C, Diatloff-Zito C. 2002. Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes. J Med Genet 39:370-374. (Pubitemid 34526361)
43. Metz C, Cavé H, Bertrand AM, Deffert C, Gueguen-Giroux B, Czernichow P, Polak M, NDM French Study Group, Neonatal Diabetes Mellitus. 2002. Neonatal diabetes mellitus: Chromosomal analysis in transient and permanent cases. J Pediatr 141:483-489.
44. Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JRW, Woods CG, Reik W, Maher ER. 2009. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann syndrome). PLoS Genet 5:s1000423.
45. Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R. 2006. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet 38:300-302. (Pubitemid 43315751)
46. Prokopenko I, McCarthy MI, Lindgren CM. 2008. Type 2 diabetes: New genes, new understanding. Trends Genet 24:613-621.
47. Ramsey WR. 1926. Glycosuria of the newborn treated with insulin. Trans Am Pediatr Soc 38:100-101.
48. Robertson KD. 2006. DNA methylation and human disease. Nat Rev Genet 6:597-610.
49. Rozenfeld-Granot G, Krishnamurthy J, Kannan K, Toren A, Amariglio N, Givol D, Rechavi G. 2002. A positive feedback mechanism in the transcriptional activation of Apaf-1 by p53 and the coactivator Zac-1. Oncogene 21:1469-1476. (Pubitemid 34226133)
50. Scott RH, Douglas J, Baskcomb L, Huxter N, Barker K, Hanks S, Craft A, Gerrard M, Kohler JA, Levitt GA, Picton S, Pizer B, Ronghe MD, Williams D, Factors Associated with Childhood Tumors (FACT) Collaboration, Cook JA, Pujol P, Maher ER, Birch JM, Stiller CA, Pritchard-Jones K, Rahman N, 2008. Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet 40:1329-1334.
51. Shield JPH. 2000. Neonatal diabetes: New insights into aetiology and implications. Horm Res 53:7-11. (Pubitemid 30481314)
52. Shield JP, Temple IK, Sabin M, Mackay D, Robinson DO, Betts PR, Carson DJ, Cave H, Chevenne D, Polak M. 2004. An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. Arch Dis Child Fetal Neonatal Ed 89:F341-F343. (Pubitemid 38869678)
53. Smith FA, Garfield AS, Ward A. 2006. Regulation of growth and metabolism by imprinted genes. Cytogenet Genome Res 113:279-291.
54. Temple IK, James RS, Crolla JA, Sitch FL, Jacobs PA, Howell WM, Betts P, Baum JD, Shield JP. 1995. An imprinted gene(s) for diabetes? Nat Genet 9:110-112.
55. Temple IK, Gardner RJ, Mackay DJ, Barber JC, Robinson DO, Shield JP. 2000. Transient neonatal diabetes: Widening the understanding of the etiopathogenesis of diabetes. Diabetes 49:1359-1366. (Pubitemid 30624238)
56. Unoki H, Takahashi A, Kawaguchi T, Hara K, Horikoshi M, Andersen G, Ng DP, Holmkvist J, Borch-Johnsen K, Jørgensen T, Sandbaek A, Lauritzen T, Hansen T, Nurbaya S, Tsunoda T, Kubo M, Babazono T, Hirose H, Hayashi M, Iwamoto Y, Kashiwagi A, Kaku K, Kawamori R, Tai ES, Pedersen O, Kamatani N, Kadowaki T, Kikkawa R, Nakamura Y, Maeda S. 2008. SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat Genet 40:1039-1040.
57. Valerio G, Franzese A, Salerno M, Muzzi G, Cecere G, Temple IK, Shield JPH. 2004. Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon. Diabetes Care 27:2405-2408. (Pubitemid 39281393)
58. Valleley EM, Cordery SF, Bonthron DT. 2007. Tissue-specific imprinting of the ZAC/ PLAGL1 tumor suppressor gene results from variable utilization of monoallelic and biallelic promoters. Hum Mol Genet 16:972-981.
59. Wallace C, Smyth DJ, Maisuria-Armer M, Walker NM, Todd JA, Clayton DG. 2009. The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes. Nat Genet 42:68-71.
60. Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. 2002. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 15:1317-1325.
61. Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan S, Mackay DJG, Steichen E, Meraner D, Zimmerhackl L, Hattersley AT, Ellard S, Hofer S. 2010. Incidence of Neonatal Diabetes in Austria - Calculation based on the Austrian Diabetes Register. Pediatr Diabetes 11:18-23.
62. Zneimer SM, Ziel B, Bachman R. 1998. Partial trisomy of chromosome 6q: An interstitial duplication of the long arm. Am J Med Genet Part A 80:133-135. (Pubitemid 28485692)