A case of diabetes mellitus associated with Rett Syndrome

Journal of Pediatric Endocrinology and Metabolism

Volumn 25, Issue 1-2, 2012, Pages 197-198

  Akin, Leyla ^a   Adal, Erdal ^b   AliAkin, Mustafa ^a   Kurtoglu, Selim ^a  

^a ERCIYES UNIVERSITY   (Turkey)

^b Bakirkoy Maternity and Children's Hospital   (Turkey)

Author keywords

Diabetes mellitus type 1; MeCP2; Rett syndrome

Indexed keywords

C PEPTIDE; GLUCOSE; HEMOGLOBIN A1C; INSULIN; LAMOTRIGINE;

AGITATION; ARTICLE; AUTISM; BODY POSTURE; BRUXISM; CASE REPORT; CHILD; COGNITIVE DEFECT; DENVER DEVELOPMENTAL SCREENING TEST; DEVELOPMENTAL DISORDER; DIABETES CONTROL; DIET THERAPY; DISEASE ASSOCIATION; DYSPHAGIA; ELECTROENCEPHALOGRAPHY; FEMALE; GAIT DISORDER; GLUCOSE BLOOD LEVEL; GLUCOSURIA; HAND MOVEMENT; HEMOGLOBIN BLOOD LEVEL; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN TREATMENT; KETONURIA; LANGUAGE DISABILITY; MASTICATION; MOTOR DYSFUNCTION; PATIENT EDUCATION; POLYDIPSIA; POLYURIA; PROTEIN BLOOD LEVEL; PSYCHOMOTOR DEVELOPMENT; RETT SYNDROME; SCHOOL CHILD; SCOLIOSIS; SPIKE WAVE; STEREOTYPY; TREMOR; URINALYSIS; WEIGHT REDUCTION;

CHILD; CPG ISLANDS; DIABETES MELLITUS, TYPE 1; DNA METHYLATION; FEMALE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; RETT SYNDROME;

EID: 84858237856     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/JPEM.2011.337     Document Type: Article

References (16)

1. Hagberg B. Rett syndrome: Clinical peculiarities and biological mysteries. Acta Paediatr 1995;84:971-6.
2. Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, et al. Rett syndrome in Australia: A review of the epidemiology. J Pediatr 2006;148:347-52.
3. Kurtoglu S, Atabek ME, Kumandas S, Keskin M. Diabetes mellitus type 1: Association with Rett syndrome. Pediatr Int 2005;47:90-1. (Pubitemid 40314618)
4. Cameron FJ, Hawkins KC, Khadilkar VV, Tasker RC, Preece MA. Insulin-dependent diabetes mellitus presenting with ketoalkalosis in Rett syndrome. Diabet Med 1997;14:884-5. (Pubitemid 27448940)
5. Concannon P, Erlich HA, Julier C, Morahan G, Nerup J, et al. Type 1 Diabetes Genetics Consortium. Type 1 diabetes: Evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families. Diabetes 2005;54:2995-3001. (Pubitemid 41401098)
6. Tisch R, McDevitt H. Insulin-dependent diabetes mellitus. Cell 1996;85:291-7.
7. Hirshhorn JN. Genetic epidemiology of type 1 diabetes. Pediatr Diabetes 2003;4:87-100.
8. Noble JA, Valdes AM, Cook M, Klitz W, Thomson G, et al. The role of HLA class II genes in insulin-dependent diabetes mellitus: Molecular analysis of 180 Caucasian, multiplex families. Am J Hum Genet 1996;59:1134-48. (Pubitemid 26346356)
9. Zoghbi HY. MeCP2 dysfunction in humans and mice. J Child Neurol 2005;20:736-40. (Pubitemid 41498707)
10. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-8. (Pubitemid 29455390)
11. Murphy M, Naidu S, Moser HW. Rett syndrome-observational study of 33 families. Am J Med Genet 1986; (Suppl 1):73-6.
12. Kuroda A, Rauch TA, Todorov I, Ku HT, Al-Abdullah IH, et al. Insulin gene expression is regulated by DNA methylation. PLoS One 2009;4:e6953.
13. Skene PJ, Illingworth RS, Webb S, Kerr AR, James KD, et al. Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol Cell 2010;37:457-68.
14. Hansen JC, Ghosh RP, Woodcock CL. Binding of the Rett syndrome protein, MeCP2, to methylated and unmethylated DNA and chromatin. IUBMB Life 2010;62:732-8.
15. Yasui DH, Peddada S, Bieda MC, Vallero RO, Hogart A, et al. Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc Natl Acad Sci 2007;104:19416-21.
16. Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, et al. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 2008;320:1224-9. (Pubitemid 351929512)