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Volumn 28, Issue 3, 1999, Pages 647-656

Genetic mutations as a cause of hyperinsulinemic hypoglycemia in children

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AMMONIA BLOOD LEVEL; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 11P; GENE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERINSULINEMIA; HYPOGLYCEMIA; INFANT; INFANT DISEASE; INSULIN RELEASE; NEWBORN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW;

EID: 0032862672     PISSN: 08898529     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-8529(05)70092-X     Document Type: Article
Times cited : (11)

References (50)
  • 1
    • 0029024314 scopus 로고
    • Cloning of the β-cell high-affinity sulfonylurea receptor: A regulator of insulin secretion
    • L. Aguilar-Bryan C.G. Nichols S.W. Wechsler Cloning of the β-cell high-affinity sulfonylurea receptor: A regulator of insulin secretion Science 268 1995 423
    • (1995) Science , vol.268 , pp. 423
    • Aguilar-Bryan, L.1    Nichols, C.G.2    Wechsler, S.W.3
  • 2
    • 0029781327 scopus 로고    scopus 로고
    • The sulphonylurea receptor confers diazoxide sensitivity of the inwardly rectifying K+ channel Kir6.1 expressed in human embryonic kidney cells
    • + channel Kir6.1 expressed in human embryonic kidney cells J Physiol (Lond) 494 1996 709
    • (1996) J Physiol (Lond) , vol.494 , pp. 709
    • Ammala, C.1    Moorhouse, A.2    Ashcroft, F.M.3
  • 3
    • 0025300438 scopus 로고
    • Properties and functions of ATP-sensitive K-channels
    • S.J.H. Ashcroft F.M. Ashcroft Properties and functions of ATP-sensitive K-channels Cell Signal 2 1990 197
    • (1990) Cell Signal , vol.2 , pp. 197
    • Ashcroft, S.J.H.1    Ashcroft, F.M.2
  • 4
    • 0019416744 scopus 로고
    • Nesidioblastosis of the pancreas: Definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia
    • A. Aynsley-Green J.M. Polak S.R. Bloom Nesidioblastosis of the pancreas: Definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia Arch Dis Child 56 1981 496
    • (1981) Arch Dis Child , vol.56 , pp. 496
    • Aynsley-Green, A.1    Polak, J.M.2    Bloom, S.R.3
  • 5
    • 0029051541 scopus 로고
    • Calcium-ion sensing cell surface receptors
    • E.M. Brown M. Pollak C. Seidman Calcium-ion sensing cell surface receptors N Engl J Med 333 1995 234
    • (1995) N Engl J Med , vol.333 , pp. 234
    • Brown, E.M.1    Pollak, M.2    Seidman, C.3
  • 6
    • 0029780069 scopus 로고    scopus 로고
    • Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular KATP channels
    • W.A. Chutkow M.C. Simon M.M. LeBeau Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular KATP channels Diabetes 45 1996 1439
    • (1996) Diabetes , vol.45 , pp. 1439
    • Chutkow, W.A.1    Simon, M.C.2    LeBeau, M.M.3
  • 7
    • 0030996141 scopus 로고    scopus 로고
    • Association and stoichiometry of KATP channel subunits
    • J.P. Clement K. Kunjilwar G. Gonzalez Association and stoichiometry of KATP channel subunits Neuron 18 1997 827
    • (1997) Neuron , vol.18 , pp. 827
    • Clement, J.P.1    Kunjilwar, K.2    Gonzalez, G.3
  • 8
    • 0031041271 scopus 로고    scopus 로고
    • Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor
    • M.J. Dunne C. Kane R.M. Shepherd Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor N Engl J Med 336 1997 703
    • (1997) N Engl J Med , vol.336 , pp. 703
    • Dunne, M.J.1    Kane, C.2    Shepherd, R.M.3
  • 9
    • 0029836333 scopus 로고    scopus 로고
    • The Ret proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease
    • C. Eng The Ret proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease N Engl J Med 335 1996 943
    • (1996) N Engl J Med , vol.335 , pp. 943
    • Eng, C.1
  • 10
    • 0027472126 scopus 로고
    • Familial hyperglycemia due to mutations in glucokinase: Definition of a subtype of diabetes mellitus
    • P. Froguel H. Zouali N. Vionnet Familial hyperglycemia due to mutations in glucokinase: Definition of a subtype of diabetes mellitus N Engl J Med 328 1993 697
    • (1993) N Engl J Med , vol.328 , pp. 697
    • Froguel, P.1    Zouali, H.2    Vionnet, N.3
  • 11
    • 0032556969 scopus 로고    scopus 로고
    • Familial hyperinsulinism caused by an activating glucokinase mutation
    • B. Glaser P. Kesavan M. Heyman Familial hyperinsulinism caused by an activating glucokinase mutation N Engl J Med 338 1998 227
    • (1998) N Engl J Med , vol.338 , pp. 227
    • Glaser, B.1    Kesavan, P.2    Heyman, M.3
  • 12
    • 0029036747 scopus 로고
    • Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews
    • B. Glaser K.C. Chiu L. Liu Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews Hum Mol Genet 4 1995 879
    • (1995) Hum Mol Genet , vol.4 , pp. 879
    • Glaser, B.1    Chiu, K.C.2    Liu, L.3
  • 13
    • 0028236583 scopus 로고
    • Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centrometric to the insulin gene
    • B. Glaser K.C. Chiu R. Anker Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centrometric to the insulin gene Nat Genet 7 1994 185
    • (1994) Nat Genet , vol.7 , pp. 185
    • Glaser, B.1    Chiu, K.C.2    Anker, R.3
  • 14
    • 0025114228 scopus 로고
    • Persistent hyperinsulinemic hypoglycemia of infancy: Autosomal recessive inheritance in 7 pedigrees
    • B. Glaser M. Phillip R. Carmi Persistent hyperinsulinemic hypoglycemia of infancy: Autosomal recessive inheritance in 7 pedigrees Am J Med Genet 37 1990 511
    • (1990) Am J Med Genet , vol.37 , pp. 511
    • Glaser, B.1    Phillip, M.2    Carmi, R.3
  • 15
    • 0024339361 scopus 로고
    • Diffuse and focal nesidioblastosis: A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia
    • A. Goossens W. Gepts J.M. Saudubray Diffuse and focal nesidioblastosis: A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia Am J Surg Pathol 13 1989 766
    • (1989) Am J Surg Pathol , vol.13 , pp. 766
    • Goossens, A.1    Gepts, W.2    Saudubray, J.M.3
  • 16
    • 0022592291 scopus 로고
    • Nesidioblastosis and endocrine hyperplasia of the pancreas: A secondary phenomenon
    • W.B. Gousdwaard J. Houthoff J. Koudstaal Nesidioblastosis and endocrine hyperplasia of the pancreas: A secondary phenomenon Hum Pathol 17 1986 46
    • (1986) Hum Pathol , vol.17 , pp. 46
    • Gousdwaard, W.B.1    Houthoff, J.2    Koudstaal, J.3
  • 17
    • 0031677781 scopus 로고    scopus 로고
    • Tissue specificity of sulfonylurea: Studies on cloned cardiac and β-cell KATP channels
    • F.M. Gribble S.J. Tucker S. Seino Tissue specificity of sulfonylurea: Studies on cloned cardiac and β-cell KATP channels Diabetes 47 1998 1412
    • (1998) Diabetes , vol.47 , pp. 1412
    • Gribble, F.M.1    Tucker, S.J.2    Seino, S.3
  • 18
    • 0030907755 scopus 로고    scopus 로고
    • The essential role of the Walker A motifs of SUR1 in KATP channel activation by Mg-ADP and diazoxide
    • F.M. Gribble S.J. Tucker F.M. Ashcroft The essential role of the Walker A motifs of SUR1 in KATP channel activation by Mg-ADP and diazoxide EMBO J 16 1997 1145
    • (1997) EMBO J , vol.16 , pp. 1145
    • Gribble, F.M.1    Tucker, S.J.2    Ashcroft, F.M.3
  • 20
    • 0029898253 scopus 로고    scopus 로고
    • A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K channels
    • N. Inagaki T. Gonoi J.P. Clement A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K channels Neuron 16 1996 1011
    • (1996) Neuron , vol.16 , pp. 1011
    • Inagaki, N.1    Gonoi, T.2    Clement, J.P.3
  • 21
    • 0028972501 scopus 로고
    • Reconstitution of IKATP: An inward rectifier subunit plus the sulfonylurea receptor
    • N. Inagaki T. Gonoi J.P. Clement Reconstitution of IKATP: An inward rectifier subunit plus the sulfonylurea receptor Science 270 1995 1166
    • (1995) Science , vol.270 , pp. 1166
    • Inagaki, N.1    Gonoi, T.2    Clement, J.P.3
  • 22
    • 0029743412 scopus 로고    scopus 로고
    • A novel sulfonylurea receptor forms with BIR (Kir6.2) a smooth muscle type ATP-sensitive K channel
    • S. Isomoto C. Kondo M. Yamada A novel sulfonylurea receptor forms with BIR (Kir6.2) a smooth muscle type ATP-sensitive K channel J Biol Chem 40 1996 24321
    • (1996) J Biol Chem , vol.40 , pp. 24321
    • Isomoto, S.1    Kondo, C.2    Yamada, M.3
  • 23
    • 0018851716 scopus 로고
    • Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy
    • R. Jaffe Y. Hashica E.J. Yunis Pancreatic pathology in hyperinsulinemic hypoglycemia of infancy Lab Invest 42 1980 356
    • (1980) Lab Invest , vol.42 , pp. 356
    • Jaffe, R.1    Hashica, Y.2    Yunis, E.J.3
  • 24
    • 0029658788 scopus 로고    scopus 로고
    • Loss of functional KATP channels in pancreatic β-cells causes persistent hyperinsulinemic hypoglycemia of infancy
    • C. Kane R.M. Shepherd P.E. Squires Loss of functional KATP channels in pancreatic β-cells causes persistent hyperinsulinemic hypoglycemia of infancy Nat Med 2 1996 1344
    • (1996) Nat Med , vol.2 , pp. 1344
    • Kane, C.1    Shepherd, R.M.2    Squires, P.E.3
  • 25
    • 0030936044 scopus 로고    scopus 로고
    • An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus
    • A. Kukuvitis C. Deal L. Arbour An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus J Clin Endocrinol Metab 82 1997 1192
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 1192
    • Kukuvitis, A.1    Deal, C.2    Arbour, L.3
  • 26
    • 0029034723 scopus 로고
    • Variable effects of maturity-onset-diabetes of youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme
    • Y. Liang P. Kesavan L.Q. Wang Variable effects of maturity-onset-diabetes of youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme Biochem J 309 1995 167
    • (1995) Biochem J , vol.309 , pp. 167
    • Liang, Y.1    Kesavan, P.2    Wang, L.Q.3
  • 27
    • 0030880778 scopus 로고    scopus 로고
    • Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy
    • P. de Lonlay J.-C. Fournet J. Rahier 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 100 1997 802
    • (1997) J Clin Invest , vol.100 , pp. 802
    • de Lonlay, P.1    Fournet, J.-C.2    Rahier, J.3
  • 29
    • 0027358380 scopus 로고
    • Glucokinase as pancreatic beta cell glucose sensor and diabetes gene
    • F. Matschinsky Y. Liang P. Kesavan Glucokinase as pancreatic beta cell glucose sensor and diabetes gene J Clin Invest 92 1993 2092
    • (1993) J Clin Invest , vol.92 , pp. 2092
    • Matschinsky, F.1    Liang, Y.2    Kesavan, P.3
  • 30
  • 31
    • 15644367096 scopus 로고    scopus 로고
    • A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism
    • A. Nestorowicz N. Inagaki T. Gonoi A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism Diabetes 46 1997 1743
    • (1997) Diabetes , vol.46 , pp. 1743
    • Nestorowicz, A.1    Inagaki, N.2    Gonoi, T.3
  • 32
    • 0029658241 scopus 로고    scopus 로고
    • Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
    • A. Nestorowicz B.A. Wilson K.P. Schoor Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews Hum Mol Genet 5 1996 1813
    • (1996) Hum Mol Genet , vol.5 , pp. 1813
    • Nestorowicz, A.1    Wilson, B.A.2    Schoor, K.P.3
  • 33
    • 0030016913 scopus 로고    scopus 로고
    • Adenosine diphosphate as an intracellular regulator of insulin secretion
    • C.G. Nichols S.L. Shyng A. Nestorowicz Adenosine diphosphate as an intracellular regulator of insulin secretion Science 272 1996 1785
    • (1996) Science , vol.272 , pp. 1785
    • Nichols, C.G.1    Shyng, S.L.2    Nestorowicz, A.3
  • 34
    • 85119814182 scopus 로고    scopus 로고
    • 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, in press
  • 35
    • 0024545488 scopus 로고
    • Relevance of endocrine pancreas nesidioblastosis to hyperinsulinemic hypoglycemia
    • J. Rahier Relevance of endocrine pancreas nesidioblastosis to hyperinsulinemic hypoglycemia Diabetes Care 12 1989 164
    • (1989) Diabetes Care , vol.12 , pp. 164
    • Rahier, J.1
  • 36
    • 0032493123 scopus 로고    scopus 로고
    • Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
    • C.A. Stanley Y.K. Lieu B.Y.L. Hsu Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene N Engl J Med 338 1998 1352
    • (1998) N Engl J Med , vol.338 , pp. 1352
    • Stanley, C.A.1    Lieu, Y.K.2    Hsu, B.Y.L.3
  • 37
    • 0030936881 scopus 로고    scopus 로고
    • Hyperinsulinism in infants and children
    • C.A. Stanley Hyperinsulinism in infants and children Pediatr Clin North Am 44 1997 363
    • (1997) Pediatr Clin North Am , vol.44 , pp. 363
    • Stanley, C.A.1
  • 38
    • 0029836983 scopus 로고    scopus 로고
    • Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
    • P. Thomas Y. Ye E. Lightner Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy Hum Mol Genet 5 1996 1809
    • (1996) Hum Mol Genet , vol.5 , pp. 1809
    • Thomas, P.1    Ye, Y.2    Lightner, E.3
  • 39
    • 0029756638 scopus 로고    scopus 로고
    • Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy
    • P.M. Thomas N. Wohllk E. Huang Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy Am J Hum Genet 59 1996 510
    • (1996) Am J Hum Genet , vol.59 , pp. 510
    • Thomas, P.M.1    Wohllk, N.2    Huang, E.3
  • 40
    • 0029021696 scopus 로고
    • Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
    • P.M. Thomas G.J. Cote N. Wohllk Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy Science 268 1995 426
    • (1995) Science , vol.268 , pp. 426
    • Thomas, P.M.1    Cote, G.J.2    Wohllk, N.3
  • 41
    • 0028801579 scopus 로고
    • Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy
    • P.M. Thomas G.J. Cote D.M. Hallman Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy Am J Hum Genet 56 1995 416
    • (1995) Am J Hum Genet , vol.56 , pp. 416
    • Thomas, P.M.1    Cote, G.J.2    Hallman, D.M.3
  • 42
    • 0031942583 scopus 로고    scopus 로고
    • Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant
    • P.S. Thornton M.S. Satin-Smith K. Herold Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant J Pediatr 132 1998 9
    • (1998) J Pediatr , vol.132 , pp. 9
    • Thornton, P.S.1    Satin-Smith, M.S.2    Herold, K.3
  • 43
    • 0026053121 scopus 로고
    • Familial and sporadic hyperinsulinism: Histopathologic findings and segregation analysis support a single autosomal recessive disorder
    • P.S. Thornton A.E. Sumner E.D. Ruchelli Familial and sporadic hyperinsulinism: Histopathologic findings and segregation analysis support a single autosomal recessive disorder J Pediatr 199 1991 721
    • (1991) J Pediatr , vol.199 , pp. 721
    • Thornton, P.S.1    Sumner, A.E.2    Ruchelli, E.D.3
  • 44
    • 0029936310 scopus 로고    scopus 로고
    • Rat inwardly rectifying potassium channel Kir6.2: Cloning, electrophysiological characterization, and decreased expression in pancreatic islets of male Zucker diabetic fatty rats
    • Y. Tokuyama Z. Fan H. Furuta Rat inwardly rectifying potassium channel Kir6.2: Cloning, electrophysiological characterization, and decreased expression in pancreatic islets of male Zucker diabetic fatty rats Biochem Biophys Res Commun 220 1996 532
    • (1996) Biochem Biophys Res Commun , vol.220 , pp. 532
    • Tokuyama, Y.1    Fan, Z.2    Furuta, H.3
  • 45
    • 0031005755 scopus 로고    scopus 로고
    • Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor
    • + channels in the absence of the sulphonylurea receptor Nature 387 1997 179
    • (1997) Nature , vol.387 , pp. 179
    • Tucker, S.J.1    Gribble, F.M.2    Zhao, C.3
  • 46
    • 0032190017 scopus 로고    scopus 로고
    • Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinema in focal adenomatous hyperplasia
    • V. Verkarre J.-G. Founet P. de Lonay Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinema in focal adenomatous hyperplasia J Clin Invest 102 1998 1286
    • (1998) J Clin Invest , vol.102 , pp. 1286
    • Verkarre, V.1    Founet, J.-G.2    de Lonay, P.3
  • 47
    • 0001607723 scopus 로고
    • Distantly related sequences in the α- and β-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold
    • J.E. Walker M. Saraste M.J. Runswick Distantly related sequences in the α- and β-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold EMBO J 1 1982 945
    • (1982) EMBO J , vol.1 , pp. 945
    • Walker, J.E.1    Saraste, M.2    Runswick, M.J.3
  • 48
    • 0030785535 scopus 로고    scopus 로고
    • A syndrome of congenital hyperinsulinism and hyperammonemia
    • S.A. Weinzimer C.A. Charles G.T. Berry A syndrome of congenital hyperinsulinism and hyperammonemia J Pediatr 130 1997 661
    • (1997) J Pediatr , vol.130 , pp. 661
    • Weinzimer, S.A.1    Charles, C.A.2    Berry, G.T.3
  • 49
    • 0027289089 scopus 로고
    • Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann (BWS) syndrome phenotype refines the localization and suggests the gene for BWS is imprinted
    • A. Weksberg I. Teshima B.R.G. Williams Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann (BWS) syndrome phenotype refines the localization and suggests the gene for BWS is imprinted Hum Mol Genet 2 1993 549
    • (1993) Hum Mol Genet , vol.2 , pp. 549
    • Weksberg, A.1    Teshima, I.2    Williams, B.R.G.3
  • 50
    • 0029808377 scopus 로고    scopus 로고
    • Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia
    • E. Zammarchi L. Filippi E. Novembre Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia Metabolism 45 1996 957
    • (1996) Metabolism , vol.45 , pp. 957
    • Zammarchi, E.1    Filippi, L.2    Novembre, E.3


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