Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: A prospective cohort study

The Lancet Diabetes and Endocrinology

Volumn 1, Issue 3, 2013, Pages 199-207

  Busiah, Kanetee ^a   Drunat, Séverine ^b   Vaivre Douret, Laurence ^d   Bonnefond, Amélie ^e,f,g   Simon, Albane ^h   Flechtner, Isabelle ⁱ   Gérard, Bénédicte ^b   Pouvreau, Nathalie ^b   Elie, Caroline ⁱ   Nimri, Revital ^j   Vries, Liat De ^j   Tubiana Rufi, Nadia ^b   Metz, Chantal ^k   Bertrand, Anne Marie ^l   Nivot Adamiak, Sylvie ^m   de Kerdanet, Marc ^m   Stuckens, Chantal ⁿ   Jennane, Farida ^o   Souchon, Pierre François ^p   Tallec, Claire Le ^q   Désirée, Christelle ^b   Pereira, Sabrina ^b   Dechaume, Aurélie ^e,f,g   Robert, Jean Jacques ⁱ   Phillip, Moshe ^j   Scharfmann, Raphaël ^c   Czernichow, Paul ⁱ   Froguel, Philippe ^e,f,g,r   Vaxillaire, Martine ^e,f,g   Polak, Michel ^a   Cavé, Hélène ^b,c   more..

^a INSERM   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d UNIVERSITÉ PARIS SACLAY   (France)

^e INSTITUT PASTEUR DE LILLE   (France)

^f France   (France)

^g UNIV LILLE   (France)

^h CENTRE HOSPITALIER DE VERSAILLES   (France)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^k BREST UNIVERSITY HOSPITAL   (France)

^l Department of Paediatrics   (France)

^m RENNES UNIVERSITY HOSPITAL   (France)

ⁿ LILLE UNIVERSITY HOSPITAL   (France)

^o A Harouchi Paediatric Teaching Hospital   (Morocco)

^p AMERICAN MEMORIAL HOSPITAL   (France)

^q Department of Paediatrics   (France)

^r HAMMERSMITH HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER C8; ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; GLUCOSE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; PREPROINSULIN; SULFONYLUREA RECEPTOR 1; UNCLASSIFIED DRUG; ABCC8 PROTEIN, HUMAN; INWARDLY RECTIFYING POTASSIUM CHANNEL; PROTEIN PRECURSOR; SULFONYLUREA RECEPTOR;

ABCC8 GENE; AGE; APRAXIA; ARTICLE; ATTENTION DEFICIT DISORDER; AUTOIMMUNITY; CHROMOSOME 6Q; CHROMOSOME ABERRATION; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL COORDINATION DISORDER; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EARLY DIAGNOSIS; ECHOGRAPHY; EPILEPSY; FEMALE; FOLLOW UP; GENE; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERGLYCEMIA; INFANT; INS GENE; INTRAUTERINE GROWTH RETARDATION; KCNJ11 GENE; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MALE; MEDICAL ASSESSMENT; MENTAL DISEASE; NEWBORN DIABETES MELLITUS; PANCREAS ISLET BETA CELL; PRIORITY JOURNAL; PROSPECTIVE STUDY; RECURRENCE RISK; REMISSION; URINARY TRACT MALFORMATION; CHILD; CHROMOSOME 6; CLINICAL TRIAL; DIABETES MELLITUS; FRANCE; GENETIC ASSOCIATION; GENETICS; KAPLAN MEIER METHOD; MULTICENTER STUDY; MUTATION; NEWBORN; PANCREAS; PATHOLOGY; PHENOTYPE; PSYCHOMOTOR DISORDER;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 6; COHORT STUDIES; DEVELOPMENTAL DISABILITIES; DIABETES MELLITUS; FRANCE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; INSULIN; KAPLAN-MEIER ESTIMATE; MUTATION; PANCREAS; PHENOTYPE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROSPECTIVE STUDIES; PROTEIN PRECURSORS; PSYCHOMOTOR DISORDERS; SULFONYLUREA RECEPTORS;

EID: 84885955858     PISSN: 22138587     EISSN: None     Source Type: Journal    
DOI: 10.1016/S2213-8587(13)70059-7     Document Type: Article

References (41)

1. Iafusco D, Massa O, Pasquino B, et al. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births. Acta Diabetol 2012, 49:405-408.
2. Slingerland AS, Shields BM, Flanagan SE, et al. Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia 2009, 52:1683-1685.
3. Polak M, Cave H Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis 2007, 2:12.
4. Temple IK, Shield JP 6q24 transient neonatal diabetes. Rev Endocr Metab Disord 2010, 11:199-204.
5. Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 2004, 350:1838-1849.
6. Vaxillaire M, Populaire C, Busiah K, et al. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 2004, 53:2719-2722.
7. Babenko AP, Polak M, Cave H, et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 2006, 355:456-466.
8. Pearson ER, Flechtner I, Njolstad PR, et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med 2006, 355:467-477.
9. Bonnefond A, Lomberk G, Buttar N, et al. Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. J Biol Chem 2011, 286:28414-28424.
10. Stoy J, Edghill EL, Flanagan SE, et al. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci USA 2007, 104:15040-15044.
11. Garin I, Edghill EL, Akerman I, et al. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci USA 2010, 107:3105-3110.
12. Polak M, Dechaume A, Cave H, et al. Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early-infancy: a report from the French ND Study Group. Diabetes 2008, 57:1115-1119.
13. Greeley SA, Tucker SE, Naylor RN, Bell GI, Philipson LH Neonatal diabetes mellitus: a model for personalized medicine. Trends Endocrinol Metab 2010, 21:464-472.
14. 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, 49:1359-1366.
15. Docherty LE, Kabwama S, Lehmann A, et al. Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia 2013, 56:758-762.
16. Slingerland AS, Hurkx W, Noordam K, et al. Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med 2008, 25:277-281.
17. Hattersley AT, Ashcroft FM Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes 2005, 54:2503-2513.
18. Vaivre-Douret L, Lalanne C, Ingster-Moati I, et al. Subtypes of developmental coordination disorder: research on their nature and etiology. Dev Neuropsychol 2011, 36:614-643.
19. Mamelle N, Munoz F, Grandjean H Fetal growth from the AUDIPOG study. I. Establishment of reference curves. J Gynecol Obstet Biol Reprod (Paris) 1996, 25:61-70. (in French).
20. Meur G, Simon A, Harun N, et al. Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention. Diabetes 2010, 59:653-661.
21. Flanagan SE, Clauin S, Bellanne-Chantelot C, et al. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 2009, 30:170-180.
22. Flanagan SE, Patch AM, Mackay DJ, et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007, 56:1930-1937.
23. Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia 2006, 49:1190-1197.
24. Rica I, Luzuriaga C, Perez de NG, et al. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. Diabet Med 2007, 24:707-713.
25. Stoy J, Greeley SA, Paz VP, et al. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes 2008, 9:450-459.
26. Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab 2007, 92:3979-3985.
27. Mackay DJ, Callaway JL, Marks SM, et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008, 40:949-951.
28. von Muhlendahl KE, Herkenhoff H Long-term course of neonatal diabetes. N Engl J Med 1995, 333:704-708.
29. McCrimmon RJ, Ryan CM, Frier BM Diabetes and cognitive dysfunction. Lancet 2012, 379:2291-2299.
30. Riveline JP, Rousseau E, Reznik Y, et al. Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations. Diabetes Care 2012, 35:248-251.
31. Clark RH, McTaggart JS, Webster R, et al. Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin. Science 2010, 329:458-461.
32. Li B, Xi X, Roane DS, Ryan DH, Martin RJ Distribution of glucokinase, glucose transporter GLUT2, sulfonylurea receptor-1, glucagon-like peptide-1 receptor and neuropeptide Y messenger RNAs in rat brain by quantitative real time RT-PCR. Brain Res Mol Brain Res 2003, 113:139-142.
33. Thomzig A, Laube G, Pruss H, Veh RW Pore-forming subunits of K-ATP channels, Kir6.1 and Kir6.2, display prominent differences in regional and cellular distribution in the rat brain. J Comp Neurol 2005, 484:313-330.
34. Stoll C, Ayme S, Beckers R, et al. Distribution of single organ malformations in European populations. Ann Genet 1995, 38:32-43. EUROCAT Working Group.
35. Caselli R, Mencarelli MA, Papa FT, et al. A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears. Eur J Med Genet 2007, 50:315-321.
36. Laborie LB, Mackay DJ, Temple IK, Molven A, Sovik O, Njolstad PR DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins. Eur J Pediatr 2010, 169:207-213.
37. Lin JP, O'Donnell CJ, Jin L, Fox C, Yang Q, Cupples LA Evidence for linkage of red blood cell size and count: genome-wide scans in the Framingham Heart Study. Am J Hematol 2007, 82:605-610.
38. Economides DL, Proudler A, Nicolaides KH Plasma insulin in appropriate- and small-for-gestational-age fetuses. Am J Obstet Gynecol 1989, 160:1091-1094.
39. Ma D, Shield JP, Dean W, et al. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. J Clin Invest 2004, 114:339-348.
40. Hulzebos CV, Sauer PJ Energy requirements. Semin Fetal Neonatal Med 2007, 12:2-10.
41. Amiel SA, Caprio S, Sherwin RS, Plewe G, Haymond MW, Tamborlane WV Insulin resistance of puberty: a defect restricted to peripheral glucose metabolism. J Clin Endocrinol Metab 1991, 72:277-282.