title: High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
abstract: BACKGROUND
  Congenital hyperinsulinism of infancy (CHI) represents a group of heterogeneous disorders characterized by oversecretion of insulin from pancreatic β-cells causing severe hypoglycemia.
  
  
  OBJECTIVE
  We studied the distribution of genetic causes of CHI in a Czech population.
  
  
  METHODS
  Countrywide collection of patients with CHI included 40 subjects (12 females, median age of diagnosis, 1 wk [interquartile range, 1-612 wk]). We sequenced the ABCC8, KCNJ11, GLUD1, GCK, HADH, UCP2, SLC16A1, HNF4A, and HNF1A genes and investigated structural changes in the ABCC8 gene. We functionally tested novel variants in the ABCC8 gene by Rb(86+) efflux assay and novel variants in the HNF1A gene by transcriptional activation and DNA-binding tests.
  
  
  RESULTS
  We found causal mutations in 20 subjects (50%): 19 carried a heterozygous mutation while one patient was homozygous for mutation in the ABCC8 gene. Specifically, we detected 11 mutations (seven novel) in ABCC8, one novel mutation in KCNJ11, five mutations (two novel) in HNF1A, two novel mutations in HNF4A, and one in GCK. We showed a decrease of activation by diazoxide in mutant KATP channels with novel ABCC8 variants by 41-91% (median, 82%) compared with wild-type (WT) channels and reduced transcriptional activity of mutant HNF1A proteins (2.9% for p.Asn62Lysfs93* and 22% for p.Leu254Gln) accompanied by no DNA-binding ability compared with WT HNF1A.
  
  
  CONCLUSIONS
  We detected a higher proportion of heterozygous mutations causing CHI compared with other cohorts probably due to lack of consanguinity and inclusion of milder CHI forms. Interestingly, HNF1A gene mutations represented the second most frequent genetic cause of CHI in the Czech Republic. Based on our results we present a genetic testing strategy specific for similar populations.
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Klara
authors.initials: K
authors.lastname: Rozenkova
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Jana
authors.initials: J
authors.lastname: Malikova
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Azizun
authors.initials: A
authors.lastname: Nessa
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Lenka
authors.initials: L
authors.lastname: Dusatkova
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Lise
authors.initials: L
authors.lastname: Bjørkhaug
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Barbora
authors.initials: B
authors.lastname: Obermannova
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Petra
authors.initials: P
authors.lastname: Dusatkova
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Jitka
authors.initials: J
authors.lastname: Kytnarova
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Ingvild
authors.initials: I
authors.lastname: Aukrust
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Laeya A
authors.initials: LA
authors.lastname: Najmi
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Blanka
authors.initials: B
authors.lastname: Rypackova
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Sumnik
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Jan
authors.initials: J
authors.lastname: Lebl
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Pål R
authors.initials: PR
authors.lastname: Njølstad
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
authors.affiliation: Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.
authors.forename: Stepanka
authors.initials: S
authors.lastname: Pruhova
mesh_terms: D000328:Adult; D002675:Child, Preschool; D015331:Cohort Studies; D044903:Congenital Hyperinsulinism / Q000453:epidemiology* / Q000235:genetics*; D018153:Czech Republic / Q000453:epidemiology; D004247:DNA / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D000081410:Germinal Center Kinases; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D011247:Pregnancy; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D012414:Rubidium Radioisotopes; D064233:Sulfonylurea Receptors / Q000235:genetics*; D015533:Transcriptional Activation; D000099161:Kcnj11 Channel
chemical_list: D004247:DNA; D000081410:Germinal Center Kinases; D051538:Hepatocyte Nuclear Factor 1-alpha; D051557:Hepatocyte Nuclear Factor 4; D024661:Potassium Channels, Inwardly Rectifying; D017346:Protein Serine-Threonine Kinases; D012414:Rubidium Radioisotopes; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human; C496487:HNF1A protein, human; C496592:HNF4A protein, human