Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell

Journal of Pediatric Endocrinology and Metabolism

Volumn 24, Issue 11-12, 2011, Pages 1019-1023

  Öçal, Gönül ^a   Flanagan, Sarah E ^b   Hacihamdioǧlu, Bülent ^a   Berberoǧlu, Merih ^a   Şiklar, Zeynep ^a   Ellard, Sian ^b   Erdeve, Şenay Savas ^b   Okulu, Emel ^a   Akin, Ilke Mungan ^a   Atasay, Begum ^a   Arsan, Saadet ^a   Yaǧmurlu, Aydin ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

congenital hyperinsulinism; K ATP channel; mutation

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; AUTOANTIBODY; CALCIUM CHANNEL BLOCKING AGENT; DIAZOXIDE; GLUCOSE; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; SOMATOSTATIN DERIVATIVE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIABETES MELLITUS; DOMINANT INHERITANCE; FEMALE; GENETIC CODE; GENETIC TRAIT; GLUCOSE BLOOD LEVEL; HETEROZYGOSITY; HUMAN; HUMAN CELL; INSULIN BLOOD LEVEL; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PANCREAS ISLET BETA CELL; PANCREAS RESECTION; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PREPUBERTY; PRESCHOOL CHILD; RECESSIVE INHERITANCE; SCHOOL CHILD; TREATMENT FAILURE; TREATMENT RESPONSE;

ADOLESCENT; ATP-BINDING CASSETTE TRANSPORTERS; BIRTH WEIGHT; CHILD; CHILD, PRESCHOOL; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; INSULIN-SECRETING CELLS; KATP CHANNELS; MALE; PEDIGREE; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; TREATMENT OUTCOME;

EID: 83655164687     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/JPEM.2011.347     Document Type: Article

References (13)

1. Fournet JC, Junien J. The genetics of neonatal hyperinsulinism. Horm Res 2003;59(Suppl 1):30-4.
2. Huopio H, Reimann F, Komulainen J, Reimann F, Komulainen J, et al. Dominantly inherited hyperinsulinism caused by a mutation in sulfonylurea receptor type 1. J Clin Invest 2000;28:897-906.
3. Huopio H, Otonkoski T, Vauhkonen I, Reimann F, Ashcroft FM, et al. A new subtype of autosomal dominant diabetes attributable to mutation in the gene for sulfonylurea receptor 1. Lancet 2003;361:301-7. (Pubitemid 36126191)
4. de Lonlay P, Giurgea I, Sempoux C, Touati G, Jaubert F, et al. Dominantly inherited hyperinsulinemic hypoglycemia. J Ingherited Metab Dis 2005;28:267-76.
5. AT P channel mutations. J Clin Invest 2008;118:2877-86.
6. Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, et al. Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations. Diabetologia. 2011; 54:2575-83.
7. Flanagan SE, Kapoor RR, Banerjee C, Hall C, Smith V V, et al. Dominantly acting ABCC8 mutations with medically unresponsive hyperinsulinemic hypoglycemia. Clin Genet 2011;79:582-7.
8. Remedi MS, Nichols CG. Hyperinsulinism and diabetes: genetic dissection of beta cell metabolism-excitation coupling in mice. Cell Metab 2009;10:442-53.
9. Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, et al. Mutations in ATP-sensitive K + channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007;56:1930-7. (Pubitemid 47025462)
10. Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, 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;30:170-80.
11. Bellanné-Chantelot C, Saint-Martin C, Ribeiro M-J, Vaury C, Verkarre V, et al. ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsu-linism. J Med Genet 2010;47:752-9.
12. DeLeon DD, Stanley CA. Mechanism of disease: advances in diagnosis and treatment of hyperinsulinism. Nat Clin Pract Endocrinol Metab 2007;3:57-8.
13. Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, et al. Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. J Clin Endocr Metab 2004;89:6224-34. (Pubitemid 39628437)