Aetiopathology and genetic basis of neonatal diabetes

A British Paediatric Association Surveillance Unit* study of neonatal diabetes determined a national incidence of 1 in 400 000 live births. Additional cases of transient neonatal diabetes were collected retrospectively. Most cases were of low birthweight at term: none had evidence of an autoimmune aetiopathogenesis. The median requirement for exogenous insulin treatment was three months.  A significant number of cases developed type 2 diabetes in later life. Three of the 11 cases were found to have paternal uniparental isodisomy of chromosome 6. A further patient carried an unbalanced duplication of 6q 22-23, inherited from the father, which localised a potentially imprinted gene for diabetes to this region.  The fact that low birthweight predisposes to type 2 diabetes in later life is well established, but a genetic defect that may relate both to intrauterine growth failure and the development of type 2 diabetes in later life has now been identified.

[1]  J. Barber,et al.  Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23. , 1996, Human molecular genetics.

[2]  K. E. von Mühlendahl,et al.  Long-term course of neonatal diabetes. , 1995, The New England journal of medicine.

[3]  J. Shield,et al.  Insulin dependent diabetes in children under 5: incidence and ascertainment validation for 1992 , 1995, BMJ.

[4]  J. D. Baum,et al.  An imprinted gene(s) for diabetes? , 1995, Nature Genetics.

[5]  J. Shield,et al.  Transient neonatal diabetes and later onset diabetes: a case of inherited insulin resistance. , 1995, Archives of disease in childhood.

[6]  M. Andrien,et al.  Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. , 1994, The Journal of clinical investigation.

[7]  Cécile Fizames,et al.  The 1993–94 Généthon human genetic linkage map , 1994, Nature Genetics.

[8]  D. Klein,et al.  Recurrence of insulin-dependent diabetes mellitus after transient neonatal diabetes: a report of two cases. , 1993, The Journal of pediatrics.

[9]  J. Shield,et al.  Is transient neonatal diabetes a risk factor for diabetes in later life? , 1993, The Lancet.

[10]  F. Hanefeld,et al.  Distinct neurological syndrome in two brothers with hyperuricaemia , 1992, The Lancet.

[11]  M. Geffner,et al.  Permanent Diabetes Without Serological Evidence of Autoimmunity After Transient Neonatal Diabetes , 1992, Diabetes Care.

[12]  T. Hudson,et al.  Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. , 1992, Genomics.

[13]  C Osmond,et al.  Fetal and infant growth and impaired glucose tolerance at age 64. , 1991, BMJ.

[14]  M. Qumsiyeh,et al.  Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome. , 1990, Journal of medical genetics.

[15]  D. Pinkel,et al.  Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[16]  Shirley A. Miller,et al.  A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.

[17]  O. Garson,et al.  Fluorodeoxyuridine synchronization of bone marrow cultures. , 1983, Cancer genetics and cytogenetics.

[18]  J. Kloss.  Transient Diabetes in the Newborn , 1967, Clinical pediatrics.

[19]  A. Tenore,et al.  Two Interesting Cases of Transient Neonatal Diabetes Mellitus , 1994, The Journal of pediatric endocrinology.

[20]  M. Cornblath,et al.  Transient diabetes of the newborn. , 1969, Advances in pediatrics.