Relative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism

Diabetes

Volumn 61, Issue 1, 2012, Pages 258-263

  Shemer, Ruth ^a   Ziv, Carmit Avnon ^b   Laiba, Efrat ^b   Zhou, Qing ^c   Gay, Joel ^c   Tunovsky Babaey, Sharona ^b   Shyng, Show Ling ^c   Glaser, Benjamin ^b   Zangen, David H ^b  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE MAGNESIUM; ADENOSINE TRIPHOSPHATE; COMPLEMENTARY DNA; GLUCOSE; MEMBRANE PROTEIN; MESSENGER RNA; OCTREOTIDE; POTASSIUM CHANNEL KCNQ1; PROTEIN ABCC8; SULFONYLUREA RECEPTOR 1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CELL SURFACE; CHROMOSOME 11P; DNA SEQUENCE; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HETEROZYGOSITY LOSS; HUMAN; HYPOGLYCEMIA; LYMPHOCYTE; NEWBORN; PEDIGREE ANALYSIS; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PRIORITY JOURNAL; PROMOTER REGION;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; FEMALE; GENE EXPRESSION REGULATION; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; PEDIGREE; PERSISTENT HYPERINSULINEMIA HYPOGLYCEMIA OF INFANCY; PHENOTYPE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG;

EID: 84555186712     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db11-0984     Document Type: Article

References (25)

1. Aynsley-Green A, Hussain K, Hall J, et al. Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed 2000;82:F98-F107 (Pubitemid 30305748)
2. Giurgea I, Bellanné-Chantelot C, Ribeiro M, et al. Molecular mechanisms of neonatal hyperinsulinism. Horm Res 2006;66:289-296 (Pubitemid 44795913)
3. Glaser B. Hyperinsulinism of the newborn. Semin Perinatol 2000;24:150-163 (Pubitemid 30228407)
4. Glaser B, Thornton P, Otonkoski T, Junien C. Genetics of neonatal hyperinsulinism. Arch Dis Child Fetal Neonatal Ed 2000;82:F79-F86 (Pubitemid 30305746)
5. Stanley CA. Advances in diagnosis and treatment of hyperinsulinism in infants and children. J Clin Endocrinol Metab 2002;87:4857-4859 (Pubitemid 35316315)
6. Fournet JC, Mayaud C, de Lonlay P, et al. Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. Am J Pathol 2001;158:2177-2184 (Pubitemid 32545203)
7. Crown Human Genome Center. GeneCards; The Human HYPERLINK, 1996-2011. Rehovot, Israel, the Weizmann Institute of Science. Available from http://www.genecards.org Gene Database. Accessed 16 November 2011
8. Nestorowicz A, Glaser B, Wilson BA, et al. Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet 1998;7:1119-1128 (Pubitemid 28306876)
9. Tornovsky S, Crane A, Cosgrove KE, et al. Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. J Clin Endocrinol Metab 2004;89:6224-6234 (Pubitemid 39628437)
10. Ashfield R, Ashcroft SJ. Cloning of the promoters for the beta-cell ATPsensitive K-channel subunits Kir6.2 and SUR1. Diabetes 1998;47:1274-1280 (Pubitemid 28357005)
11. Taschenberger G, Mougey A, Shen S, Lester LB, LaFranchi S, Shyng SL. Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. J Biol Chem 2002;277:17139-17146 (Pubitemid 34967746)
12. Shyng SL, Ferrigni T, Shepard JB, et al. Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 1998;47:1145-1151 (Pubitemid 28294559)
13. Engemann S, El-Maarri O, Hajkova P, Oswald J, Walter J. Bisulfite-based methylation analysis of imprinted genes. Methods Mol Biol 2001;181:217-228
14. Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ. Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev 2004;84:239-275 (Pubitemid 38049881)
15. Gloyn AL, Siddiqui J, Ellard S. Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat 2006;27: 220-231
16. Huopio H, Reimann F, Ashfield R, et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 2000;106:897-906
17. Abdulhadi-Atwan M, Bushman J, Tornovsky-Babaey S, et al. Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence. Diabetes 2008;57: 1935-1940
18. 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
19. de Lonlay P, Cormier-Daire V, Amiel J, et al. Facial appearance in persistent hyperinsulinemic hypoglycemia. Am J Med Genet 2002;111:130-133 (Pubitemid 34809492)
20. Ryan F, Devaney D, Joyce C, et al. Hyperinsulinism: molecular aetiology of focal disease. Arch Dis Child 1998;79:445-447 (Pubitemid 28496006)
21. 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
22. Harries LW, Sloman MJ, Sellers EA, Hattersley AT, Ellard S. Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts. Diabetes 2008;57: 1978-1982
23. Chelly J, Concordet JP, Kaplan JC, Kahn A. Illegitimate transcription: transcription of any gene in any cell type. Proc Natl Acad Sci U S A 1989; 86:2617-2621 (Pubitemid 19112598)
24. Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2005;137C:12-23 (Pubitemid 41113659)
25. Rave-Harel N, Kerem E, Nissim-Rafinia M, et al. The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet 1997;60:87-94 (Pubitemid 26427782)