Transient neonatal diabetes, a disorder of imprinting

Journal of Medical Genetics

Volumn 39, Issue 12, 2002, Pages 872-875

  Temple, I K ^a   Shield, J P H ^b  

^a UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^b BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN HYMAI; PROTEIN ZAC; UNCLASSIFIED DRUG;

APOPTOSIS; CELL CYCLE; CHROMOSOME 6Q; CPG ISLAND; DIABETES MELLITUS; DISEASE CLASSIFICATION; EXON; GENE DUPLICATION; GENE IDENTIFICATION; GENE OVEREXPRESSION; GENETIC DISORDER; GENOME IMPRINTING; GROWTH RETARDATION; HUMAN; HYDATIDIFORM MOLE; HYMAI GENE; INHERITANCE; MITOSIS INHIBITION; NEWBORN; NEWBORN DIABETES MELLITUS; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN METHYLATION; REMISSION; REVIEW; UNIPARENTAL DISOMY; ZAC GENE; ZINC FINGER MOTIF;

EID: 0036918736     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.12.872     Document Type: Review

References (43)

1. Shield JPH, Gardner RJ, Wadsworth EJK, Whiteford ML, James RS, Robinson DO, Baum JD, Temple IK. Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child 1997;76:F39-42.
2. Ramsey WR. Glycosuria of the newborn treated with insulin. Trans Am Pediatr Soc 1926;38:100-1.
3. Hutchinson JH, Keay AJ, Kerr MM. Congenital temporary diabetes mellitus. BMJ 1962;2:436-40.
4. Lawrence RD. Congenital diabetes mellitus. BMJ 1962;2:671-2.
5. Cornblath M, Schwartz R. Disorders of Carbohydrate Metabolism: Major Problems in Clinical Paediatrics. Philadelphia: Saunders, 1966;3:105-12.
6. Briggs JR. Permanent non-insulin dependent diabetes mellitus after congenital transient neonatal diabetes. Scott Med J 1986;31:41-2.
7. Shield JPH, Baum JD. Is transient neonatal diabetes a risk factor for diabetes in later life? Lancet 1993;341:693.
8. Von Mühlendahl KE, Herkenhoff H. Long-term course of neonatal diabetes. N Engl J Med 1995;333:704-8.
9. Coffey JD, Womach NC, Natchez M. Transient neonatal diabetes mellitus in half sisters. Am J Dis Child 1967;113:480-2.
10. Fergusson AW, Milner RDG. Transient neonatal diabetes mellitus in sibs. Arch Dis Child 1970;45:80-3.
11. Temple IK, James RS, Crolla JA, Sitch FL, Jacobs P. An imprinted gene(s) for diabetes? Nat Genet 1995;9:110-12.
12. James RS, Temple IK, Dennis NR, Crolla JA. A search for uniparental disomy in carriers of supernumerary markers chromosomes. Eur J Hum Genet 1995;3:21-6.
13. Welch TR, Beischel LS, Choi E, Balakrishnan K, Bishof NA. Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. J Clin Invest 1990;86:675-8.
14. Abramowicz MJ, Andrien M, Dupont E, Dorchy H, Parma J, Duprez L, Ledley FD, Courtens W, Vamos E. Isodisomy of chromosome 6 in a newborn with methyl-malonic acidaemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest 1994;94:418-21.
15. Hermann R, Soltesz G. Paternal uniparental disomy of chromosome 6 in transient neonatal diabetes mellitus. Eur J Ped 1997;156:740.
16. Whiteford ML, Narendra A, White MP, Cooke A, Wilkinson AG, Robertson KJ, Tolmie JL. Paternal uniparental disomy a chromosome 6 causes transient neonatal diabetes. J Med Genet 1997;34:167-8.
17. Cave H, Polak M, Drunat S, Denamur E, Czernichow P. Refinement of the 6q chromosomal region implicated in transient neonatal diabetes. Diabetes 2000;49:108-13.
18. Hermann R, Laine AP, Johansson C, Niederland T, Tokarska L, Dziatowiak H, Ilonen J, Soltesz G. Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental disomy of chromosome 6. Pediatrics 2000;105:49-52.
19. Marquis E, Robert JJ, Benezech C, Junien C, Diatloff-Zito C. Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6. Eur J Hum Genet 2000;8:137-40.
20. Temple IK, Gardner RJ, MacKay DJG, Barber JCK, Robinson DO, Shield JPH. Transient neonatal diabetes mellitus: Widening our understanding of the aetiopathogenesis of diabetes. Diabetes 2000;49:1359-66.
21. Das S, Lese CM, Song M, Jensen JL, Wells LA, Barboski BL, Roseberry JA, Camacho JM, Ledbetter DH, Schur RE. Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia and craniofacial abnormalities. Am J Hum Genet 2000;67:1586-91.
22. Eggermann T, Marg W, Mergenthaler S, Eggermann K, Schemmel V, Stoffers U, Zerres K, Spranger S. Origin of uniparental disomy 6: Presentation of a new case and review on the literature. Ann Genet 2001;44:41-5.
23. Milenkavic T, Zdravkovic D, Garner RJ, Ignjatovic M, Jankovic B. Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. J Pediatr Endocrinol Metab 2001;14:893-5.
24. Temple IK, Gardner RJ, Robinson DO, Kibirige MS, Ferguson AW, Baum JD, Barber JCK, James RS, Shield JPH. Further evidence for an imprinted gene for neonatal diabetes localized to chromosome 6q22-23. Hum Mol Genet 1996;5:1117-21.
25. Gardner RJ, Mackay DJG, Mungall AJ, Polychronakos C, Siebert R, Shield JPH, Temple IK, Robinson DO, An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet 2000;9:589-96.
26. Arima T, Drewell RA, Oshimura M, Wake N, Surani MA. A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC. Genomics 2000;67:248-55.
27. 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. The cell cycle contrai gene ZAC/PLAGL1 is imprinted - A strong candidate gene for transient neonatal diabetes. Hum Mol Genet 2000;9:453-60.
28. Varrault A, Bilanges B, Mackay DJG, Basyuk E, Ahr B, Fernadez C, Robinson DO, Bockaert J, Journot L. Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitus. J Biol Chem 2001;276:18653-6.
29. Arima T, Drewell RA, Arney KL, Inoue J, Makita Y, Hata A, Oshimura M, Wake N, Surani MA. A conserved imprinting control region at the HYMA1/ZAC domain is implicated in transient neonatal diabetes. Hum Mol Genet 2001;10:1475-83.
30. Varrault A, Ciani E, Apiou F, Bilanges B, Hoffmann A, Pantaloni C, Bockaert J, Spengler D, Journot L. hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer. Proc Natl Acad Sci USA 1998;95:8835-40.
31. Ciani E, Hoffmann A, Schmidt P, Journot L, Spengler D. Induction of the PAC1-R (PACAP-type I receptor) gene by p53 and Zac. Mol Brain Res 1999;69:290-4.
32. Mackay DJG, Coupe AM, Shield JPH, Storr JNP, Temple IK, Robinson DO. Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Hum Genet 2002;110:139-44.
33. Shield JPH, Baum JD. Transient neonatal diabetes and later onset diabetes - A case of inherited insulin-resistance. Arch Dis Child 1995;72:56-7.
34. Shield J, Owen K, Robinson DO, Mackay D, Ellard S, Hattersley A, Temple IK. Maturity onset diabetes of the young (MODY) and early onset type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus. Diabetologia 2001;44:924.
35. Lindsay RS, Kobes S, Knowler WC, Bennett PH, Hanson RL. Genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of type 2 diabetes and BMI in Pima Indians. Diabetes 2001;50:2850-7.
36. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. Pancreatic agenesis attributable to a single nucleotide deletion in human IPF-1 coding region. Nat Genet 1997;15:106-10.
37. Wolcott CD, Rallison ML, Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. J Pediatr 1972;80:292-336
38. Delepine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat Genet 2000;25:406-9.
39. Brunkow ME, Jeffery EW, Hjerrild KA, Paeper B, Clark LB, Yasayko SA, Wilkinson JE, Galas D, Ziegler SF, Ramsdell F. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurty mouse. Nat Genet 2001;27:68-73.
40. Christen HJ, Hanefield F, Duley JA, Simmonds HA. Distinct neurological syndrome in two brothers with hyperuricaemia. Lancet 1992;340:1167-8.
41. Ellard S. Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum Mutat 2000;16:377-85.
42. Njolstad PR, Oddmund S, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Permanent neonatal diabetes mellitus due to glucokinase deficiency: An inborn error of the glucose/insulin signaling pathway. N Engl J Med 2001;344:1588-92.
43. Hoveyda N, Shield JPH, Garrett C, Chong WK, Beardsall K, Bentsi-Enchill E, Mallya H, Thompson MH. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: Report of an association in three members of a consanguineous family. J Med Genet 1999;36:700-4.