Neonatal diabetes mellitus: Chromosomal analysis in transient and permanent cases

Journal of Pediatrics

Volumn 141, Issue 4, 2002, Pages 483-489

  Metz, Chantal ^a,b,c   Cavé, Hélène ^a,b,c   Bertrand, Anne Marie ^a,b,c   Deffert, Christine ^a,b,c   Gueguen Giroux, Béatrice ^a,b,c   Czernichow, Paul ^a,b,c   Polak, Michel ^a,b,c  

^a CHU MORVAN   (France)

^b UNIVERSITY HOSPITAL OF BESANÇON   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN;

ARTICLE; CHROMOSOME 6Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CLINICAL TRIAL; COHORT ANALYSIS; FOLLOW UP; HUMAN; INSULIN DEPENDENCE; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN TREATMENT; INTRAUTERINE GROWTH RETARDATION; METHYLATION; MULTICENTER STUDY; NEWBORN DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELIABILITY; TRISOMY; UNIPARENTAL DISOMY;

EID: 0036797965     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2002.127089     Document Type: Article

References (35)

1. Von Mühlendahl KE, Herkenhoff H. Long-term course of neonatal diabetes. N Engl J Med 1995;333:704-8.
2. Shields JP, Gardner RJ, Wadsworth EJ, Whiteford ML, James RS, Robinson DO, et al. Aetiopathology and genetic basis of neonatal diabetes. Arch Dis Child 1997;76:39-42.
3. Ferguson AW, Milner RDG. Transient neonatal diabetes mellitus in sibs. Arch Dis Child 1970;45:80-1.
4. Fösel S. Transient and permanent neonatal diabetes. Eur J Pediatr 1999;154:944-8.
5. Shield JPH, Baum JD. Transient neonatal diabetes and later onset diabetes: a case of inherited insulin resistance. Arch Dis Child 1995;72:56-7.
6. Geffner ME, Clare-Salzler M, Kaufman DL, Ting GS, Gottschalk ME, Schatz DA. Permanent diabetes developing after transient neonatal diabetes. Lancet 1993;341:1095.
7. Temple IK, James RS, Crolla JA, Sitch FL, Jacobs PA, Howell WM, et al. An imprinted gene(s) for diabetes? Nat Genet 1995;9:110-2.
8. Coffey JD, Killelea DE. Transient neonatal diabetes in half sisters: a sequel. Arch Pediatr Adolesc Med 1982;136:626-7.
9. Whiteford ML, Narendra A, White MP, Cooke A, Wilkinson AG, Robertson KJ, et al. Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes. J Med Genet 1997;34:167-8.
10. Christian SL, Rich BH, Loebl C, Israel J, Vasa R, Kittikamron K, et al. Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. J Pediatr 1999;134:42-6.
11. Pivnik EK, Qumsiyeh MB, Tharapel AT, Summit JB, Wilroy RS. Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome. J Med Genet 1990;27:523-6.
12. Temple IK, Gardner RJ, Robinson DO, Kibirige MS, Ferguson AW, Baum JD, et al. Further evidence from imprinted gene for neonatal diabetes localized to chromosome 6q22-6q23. Hum Mol Genet 1996;5:1117-21.
13. Arthur EI, Zlotogora J, Lerer I, Dagan J, Marks K, Abeliovich D. Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin. Eur J Hum Genet 1997;5:417-9.
14. Pandya A, Braverman N, Pyeritz RE, Ying KL, Kline AD, Falk RE. Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature. Am J Med Genet 1995;59:38-43.
15. Chase TR, Jalal SM, Martsolf JT, Wasdahl WA. Duplication 6q24-6qter in an infant from a balanced paternal translocation. Am J Med Genet 1983;14:347-51.
16. Gardner RJ, Mungall AJ, Dunham I, Barber JC, Shield JP, Temple 1K, et al. Localization of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (∼5.4 Mb) interval on chromosome 6q. J Med Genet 1999;36:192-6.
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. Gardner RJ, Mackay DJ, Mungall AJ, Polychronakos C, Siebert R, Shield JP, et al. An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet 2000;9:589-96.
19. Arima T, Drewell RA, Arney KL, Inoue J, Makita Y, Hata A, et al. A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus. Hum Mol Genet 2001;10:1475-83.
20. Jonsson J, Carlsson L, Edlund T, Edlund H. Insulin-promoter-factor 1 is required for pancreas development in mice. Nature 1994;371:606-9.
21. 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;15:106-10.
22. Stoffers DA, Stanojevic V, Habener JF. Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein. J Clin Invest 1998;102:232-41.
23. Stoffers DA, Ferrer J, Clarke WL, Habener JF. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet 1997;17:138-9.
24. 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;344:1588-92.
25. Mathew PM, Hann RW, Hamdan JA. Neonatal diabetes in first cousins. Clin Pediatr 1988;27:247-51.
26. Welch TR, Beischel LS, Choi E, Balakrishnan K, Bishof N. Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. J Clin Invest 1990;86:675-8.
27. Van den Berg-Loonen EM, Savelkoul P, van Hoff H, Riesewijk A, Geraedts J. Uniparental disomy in a renal transplant patient. Hum Immunol 1996;45:46-51.
28. Schaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB. American College of Medical Genetics statement on diagnosis testing for uniparental disomy. Genet Med 2001;3:206-11.
29. Thorsby E, Ronningen KS. Particular HLA DQ molecules play a dominant role in determining susceptibility or resistance to type 1 (insulin-dependent) diabetes mellitus. Diabetologia 1993;36:371-7.
30. Veijola R, Reijonen H, Vasalo P, Sabbah E, Kulmala P, Ilonen J, et al. HLADQB1-defined genetic susceptibility, β-cell autoimmunity and metabolic characteristics in familial and non-familial insulin-dependent diabetes mellitus. Childhood Diabetes in Finland (DiMe) Study Group. J Clin Invest 1996;98:2489-95.
31. 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;49:1359-66.
32. Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet 1998;19:268-70.
33. Krook A, Brueton L, O'Rahilly S. Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. Lancet 1993;342:277-8.
34. Amiel SA, Sherwin RS, Simonson DC, Lauritano AA, Tamborlane WV. Impaired insulin action in puberty. A contributing factor to poor glycemic control in adolescents with diabetes. N Engl J Med 1986;315:215-9.
35. Hermann R, Laine AP, Johansson C, Niederland T, Tokarska L, Dziatkowiak H, et al. Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. Pediatrics 2000;105:49-52.