Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 2, 2013, Pages

  Snider, K E ^b   Becker, S ^b   Boyajian, L ^b   Shyng, S L ^c   MacMullen, C ^b   Hughes, N ^b   Ganapathy, K ^b   Bhatti, T ^b   Stanley, C A ^b   Ganguly, A ^a,d  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DIAZOXIDE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; MONOCARBOXYLATE TRANSPORTER 1; OCTREOTIDE; UNCOUPLING PROTEIN 2;

ABCC8 GENE; ARTICLE; CHILD; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; ENTERIC FEEDING; EXTRACHROMOSOMAL INHERITANCE; FRAMESHIFT MUTATION; GCK GENE; GENE; GENE EXPRESSION; GENE LOCUS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GLUD1 GENE; HADH GENE; HISTOLOGY; HNF1A GENE; HNF4A GENE; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; INDEL MUTATION; INHERITANCE; KCNJ11 GENE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATERNAL INHERITANCE; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PREDICTION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SLC16A1 GENE; SPLICING DEFECT; TREATMENT RESPONSE; UCP2 GENE;

CHILD; CHILD, PRESCHOOL; CONGENITAL HYPERINSULINISM; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; GLUTAMATE DEHYDROGENASE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; POTASSIUM CHANNELS; PROTEIN-SERINE-THREONINE KINASES;

EID: 84873643510     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-2169     Document Type: Article

References (40)

1. Stanley CA, DeLeon DD, eds. 2012 Monogenic Hyperinsulinemic Hypoglycemia Disorders. Basel, Switzerland: Karger.
2. Aguilar-Bryan L, Nichols CG, Wechsler SW, et al. Cloning of the β cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science. 1995;268:423-426.
3. Thomas PM, Cote GJ, Wohllk N, et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science. 1995;268:426-429.
4. Nestorowicz A, Inagaki N, Gonoi T, et al. A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes. 1997;46:1743-1748.
5. Nestorowicz A, Wilson BA, Schoor KP, et al. Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet. 1996;5:1813-1822.
6. Pinney SE, MacMullen C, Becker S, et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest. 2008;118: 2877-2886.
7. Macmullen CM, Zhou Q, Snider KE, et al. Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1. Diabetes. 2011;60:1797-1804.
8. de Lonlay P, Fournet JC, Rahier J, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest. 1997;100:802-807.
9. Stanley CA, Lieu YK, Hsu BY, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med. 1998;338:1352-1357.
10. Glaser B, Kesavan P, Heyman M, et al. Familial hyperinsulinism caused by an activating glucokinase mutation. NEngl J Med. 1998; 338:226-230.
11. Sayed S, Langdon DR, Odili S, et al. Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Diabetes. 2009;58:1419-1427.
12. Li C, Chen P, Palladino A, et al. Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem. 2010;285: 31806-31818.
13. Molven A, Matre GE, Duran M, et al. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes. 2004;53:221-227.
14. Clayton PT, Eaton S, Aynsley-Green A, et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion. J Clin Invest. 2001;108:457-465.
15. Heslegrave AJ, Kapoor RR, Eaton S, et al. Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase. Orphanet J Rare Dis. 2012;7:25.
16. Gonzalez-Barroso MM, Giurgea I, Bouillaud F, et al. Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One. 2008;3:e3850.
17. Pingul MM, Hughes N, Wu A, Stanley CA, Gruppuso PA. Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young. J Pediatr. 2011;158:852-854.
18. Pearson ER, Boj SF, Steele AM, et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007;4:e118.
19. Flanagan SE, Kapoor RR, Mali G, et al. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol. 2010;162:987-992.
20. Stanescu DE, Hughes N, Kaplan B, Stanley CA, De Leon DD. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab. 2012;97:E2026-E2030.
21. Dusatkova P, Pruhova S, Sumnik Z, et al. HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes. J Pediatr Endocrinol Metab. 2011;24: 377-379.
22. Otonkoski T, Kaminen N, Ustinov J, et al. Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes. 2003;52:199-204.
23. Stanley CA, Baker L Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia. Pediatrics. 1976;57:702-711.
24. Finegold DN, Stanley CA, Baker L. Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism. J Pediatr. 1980;96:257-259.
25. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081.
26. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7: 248-249.
27. 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature. 2010;467:1061-1073.
28. Flanagan SE, Patch AM, Locke JM, et al. Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab. 2011;96:E498-E502.
29. Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29:308-311.
30. + channels: identification and rescue. Diabetes. 2007;56:2339-2348.
31. Ernst LE, Suchi M, Stanley CA, Adzick NS, MacMullen C, Ruchelli ED. 2007 Localized islet cell nuclear enlargement in congenital hyperinsulinism: a distinct clinicopathologic entity. Abstract presented at: Society for Pediatric Pathology Spring Meeting; 2007; San Diego, CA.
32. Flanagan SE, Clauin S, Bellanne-Chantelot C, et al. Update of mutations in the genes encoding the pancreatic β-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2009;30:170-180.
33. Fernandez-Marmiesse A, Salas A, Vega A, Fernandez-Lorenzo JR, Barreiro J, Carracedo A. Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI). HumMutat. 2006; 27:214.
34. Bellanne-Chantelot C, Saint-Martin C, Ribeiro MJ, et al. ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J Med Genet. 2010;47: 752-759.
35. Aguilar-Bryan L, Bryan J. Molecular biology of adenosine triphos-phate-sensitive potassium channels. Endocr Rev. 1999;20:101-135.
36. Muzyamba M, Farzaneh T, Behe P, et al. Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies. Clin Endocrinol (Oxf). 2007;67:115-124.
37. + channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes. 2007;56: 1930-1937.
38. Yorifuji T, Kawakita R, Nagai S, et al. Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes. J Clin Endocrinol Metab. 2011;96:E141-E145.
39. Glaser B, Blech I, Krakinovsky Y, et al. ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia. Genet Med. 2011;13:891-894.
40. Otonkoski T, Ammala C, Huopio H, et al. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes. 1999;48:408-415.