HNF1B mutations associate with hypomagnesemia and renal magnesium wasting

Journal of the American Society of Nephrology

Volumn 20, Issue 5, 2009, Pages 1123-1131

  Adalat, Shazia ^a   Woolf, Adrian S ^a   Johnstone, Karen A ^c   Wirsing, Andrea ^d   Harries, Lorna W ^c   Long, David A ^a   Hennekam, Raoul C ^a   Ledermann, Sarah E ^a   Rees, Lesley ^a   Van't Hoff, William ^a   Marks, Stephen D ^a   Trompeter, Richard S ^a   Tullus, Kjell ^a   Winyard, Paul J ^a   Cansick, Janette ^a   Mushtaq, Imran ^a   Dhillon, Harjeeta K ^a   Bingham, Coralie ^c   Edghill, Emma L ^c   Shroff, Rukshana ^a   Stanescu, Horia ^b   Ryffel, Gerhart U ^d   Ellard, Sian ^c   Bockenhauer, Detlef ^a   more..

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c PENINSULA MEDICAL SCHOOL   (United Kingdom)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; HEPATOCYTE NUCLEAR FACTOR 1BETA; MAGNESIUM; URIC ACID; HNF1B PROTEIN, HUMAN;

ADOLESCENT; ANIMAL CELL; ARTICLE; CHRONIC KIDNEY DISEASE; CONTROLLED STUDY; DIABETES MELLITUS; FEMALE; FETUS ECHOGRAPHY; FXYD2 GENE; GENE; GENE DELETION; GLOMERULUS FILTRATION RATE; HUMAN; HYPOCALCEMIA; HYPOCALCIURIA; HYPOMAGNESEMIA; KIDNEY MALFORMATION; LABORATORY TEST; MAGNESIUM BLOOD LEVEL; MAGNESIUM URINE LEVEL; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; TETANY; BLOOD; CONGENITAL MALFORMATION; ECHOGRAPHY; FAMILY; GENETICS; HETEROZYGOTE DETECTION; HISTOLOGY; KIDNEY; MAGNESIUM DEFICIENCY; MUTATION; RETROSPECTIVE STUDY; URINE; WASTING SYNDROME;

ADOLESCENT; FAMILY; FEMALE; GLOMERULAR FILTRATION RATE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HETEROZYGOTE DETECTION; HUMANS; KIDNEY; MAGNESIUM; MAGNESIUM DEFICIENCY; MALE; MUTATION; RETROSPECTIVE STUDIES; WASTING SYNDROME;

EID: 65649146156     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2008060633     Document Type: Article

References (54)

1. Murphy R, Ellard S, Hattersley AT: Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 4: 200-213, 2008
2. Maestro MA, Cardalda C, Boj SF, Luco RF, Servitja JM, Ferrer J: Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth. Endocr Dev 12: 33-45, 2007
3. Edghill EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, Hattersley AT: Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: Support for a critical role of HNF-1 beta in human pancreatic development. Diabet Med 23: 1301-1306, 2006
4. Coffinier C, Barra J, Babinet C, Yaniv M: Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis. Mech Dev 89: 211-213, 1999 (Pubitemid 29528294)
5. Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LI, Hattersley AT, Woolf AS: Hepatocyte nuclear factor-1beta: A new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol 12: 2175-2180, 2001 (Pubitemid 32880356)
6. Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S: Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet 15: 2363-2375, 2006 (Pubitemid 44288681)
7. Fischer E, Legue E, Doyen A, Nato F, Nicolas JF, Torres V, Yaniv M, Pontoglio M: Defective planar cell polarity in polycystic kidney disease. Nat Genet 38: 21-23, 2006 (Pubitemid 43011877)
8. Gresh L, Fischer E, Reimann A, Tanguy M, Garbay S, Shao X, Hiesberger T, Fiette L, Igarashi P, Yaniv M, Pontoglio M: A transcriptional network in polycystic kidney disease. EMBO J 23: 1657-1668, 2004 (Pubitemid 38579526)
9. Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT: Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int 57: 898-907, 2000 (Pubitemid 30434780)
10. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI: Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 17: 384-385, 1997
11. Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O: A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 8: 2001-2008, 1999 (Pubitemid 29458726)
12. Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, Bell GI, Takeuchi T, Takeda J: Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction. Diabetes 47: 1354-1355, 1998 (Pubitemid 28357016)
13. Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT: Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet 68: 219-224, 2001 (Pubitemid 32048377)
14. Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT: Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int 63: 1645-1651, 2003
15. Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanne-Chantelot C: Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol 18: 923-933, 2007 (Pubitemid 46434509)
16. Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschenes G, Bouissou F, Bensman A, Bellanne-Chantelot C: Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 17: 497-503, 2006
17. Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C: Hepatocyte nuclear factor-1beta gene deletions: a common cause of renal disease. Nephrol Dial Transplant 23: 627-635, 2008
18. Edghill EL, Bingham C, Ellard S, Hattersley AT: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 43: 84-90, 2006 (Pubitemid 43099997)
19. Rebouissou S, Vasiliu V, Thomas C, Bellanne-Chantelot C, Bui H, Chretien Y, Timsit J, Rosty C, Laurent-Puig P, Chauveau D, Zucman-Rossi J: Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. Hum Mol Genet 14: 603-614, 2005 (Pubitemid 40309586)
20. Waller SC, Rees L, Woolf AS, Ellard S, Pearson ER, Hattersley AT, Bingham C: Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene. Am J Kidney Dis 40: 1325-1330, 2002 (Pubitemid 35407426)
21. Weber S, Moriniere V, Knuppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiene A, Mir S, Montini G, Peco-Antic A, Wuhl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R: Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: Results of the ESCAPE study. J Am Soc Nephrol 17: 2864-2870, 2006 (Pubitemid 44484676)
22. Woolf AS, Hillman KA: Unilateral renal agenesis and the congenital solitary functioning kidney: Developmental, genetic and clinical perspectives. BJU Int 99: 17-21, 2007
23. Murray PJ, Thomas K, Mulgrew CJ, Ellard S, Edghill EL, Bingham C: Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome. Nephrol Dial Transplant 23: 2412-2415, 2008
24. Dai LJ, Ritchie G, Kerstan D, Kang HS, Cole DE, Quamme GA: Magnesium transport in the renal distal convoluted tubule. Physiol Rev 81: 51-84, 2001 (Pubitemid 32096173)
25. Hou J, Renigunta A, Konrad M, Gomes AS, Schneeberger EE, Paul DL, Waldegger S, Goodenough DA: Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex. J Clin Invest 118: 619-628, 2008
26. Kleta R, Bockenhauer D: Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol 104: 73-80, 2006 (Pubitemid 44450475)
27. Konrad M, Schlingmann KP, Gudermann T: Insights into the molecular nature of magnesium homeostasis. Am J Physiol Renal Physiol 286: F599-F605, 2004 (Pubitemid 38365076)
28. Nijenhuis T, Vallon V, van der Kemp AW, Loffing J, Hoenderop JG, Bindels RJ: Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia. J Clin Invest 115: 1651-1658, 2005 (Pubitemid 40814674)
29. van de Graaf SF, Bindels RJ, Hoenderop JG: Physiology of epithelial Ca2+ and Mg2+ transport. Rev Physiol Biochem Pharmacol 158: 77-160, 2007
30. Geering K: FXYD proteins: New regulators of Na-K-ATPase. Am J Physiol Renal Physiol 290: F241-F250, 2006
31. Meij IC, Koenderink JB, van Bokhoven H, Assink KF, Groenestege WT, de Pont JJ, Bindels RJ, Monnens LA, van den Heuvel LP, Knoers NV: Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat Genet 26: 265-266, 2000
32. Senkel S, Lucas B, Klein-Hitpass L, Ryffel GU: Identification of target genes of the transcription factor HNF1beta and HNF1alpha in a human embryonic kidney cell line. Biochim Biophys Acta 1731: 179-190, 2005 (Pubitemid 41735113)
33. Thomas H, Senkel S, Erdmann S, Arndt T, Turan G, Klein-Hitpass L, Ryffel GU: Pattern of genes influenced by conditional expression of the transcription factors HNF6, HNF4alpha and HNF1beta in a pancreatic beta-cell line. Nucleic Acids Res 32: e150, 2004
34. Gong Y, Ma Z, Patel V, Fischer E, Hiesberger T, Pontoglio M, Igarashi P: HNF-1beta regulates transcription of the PKD modifier gene Kif12. J Am Soc Nephrol 20: 41-47,
35. Sweadner KJ, Wetzel RK, Arystarkhova E: Genomic organization of the human FXYD2 gene encoding the gamma subunit of the Na,K-ATPase. Biochem Biophys Res Commun 279: 196-201, 2000
36. Arystarkhova E, Wetzel RK, Sweadner KJ: Distribution and oligomeric association of splice forms of Na(-)-K(-)-ATPase regulatory gamma-subunit in rat kidney. Am J Physiol Renal Physiol 282: F393-F407, 2002 (Pubitemid 34654527)
37. Brooks AR, Levy-Wilson B: Hepatocyte nuclear factor 1 and C/EBP are essential for the activity of the human apolipoprotein B gene second-intron enhancer. Mol Cell Biol 12: 1134-1148, 1992
38. Kikuchi R, Kusuhara H, Hattori N, Shiota K, Kim I, Gonzalez FJ, Sugiyama Y: Regulation of the expression of human organic anion transporter 3 by hepatocyte nuclear factor 1alpha/beta and DNA methylation. Mol Pharmacol 70: 887-896, 2006 (Pubitemid 44268446)
39. Hiesberger T, Bai Y, Shao X, McNally BT, Sinclair AM, Tian X, Somlo S, Igarashi P: Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest 113: 814-825, 2004 (Pubitemid 38544140)
40. Baumhueter S, Courtois G, Crabtree GR: A variant nuclear protein in dedifferentiated hepatoma cells binds to the same functional sequences in the beta fibrinogen gene promoter as HNF-1. EMBO J 7: 2485-2493, 1988
41. Bai Y, Pontoglio M, Hiesberger T, Sinclair AM, Igarashi P: Regulation of kidney-specific Ksp-cadherin gene promoter by hepatocyte nuclear factor-1beta. Am J Physiol Renal Physiol 283: F839-F851, 2002
42. Han BK, Babcock DS: Sonographic measurements and appearance of normal kidneys in children. AJR Am J Roentgenol 145: 611-616, 1985
43. Gonzalez Celedon C, Bitsori M, Tullus K: Progression of chronic renal failure in children with dysplastic kidneys. Pediatr Nephrol 22: 1014-1020, 2007 (Pubitemid 46881921)
44. Coburn JW, Popovtzer MM, Massry SG, Kleeman CR: The physicochemical state and renal handling of divalent ions in chronic renal failure. Arch Intern Med 124: 302-311, 1969
45. Elisaf M, Panteli K, Theodorou J, Siamopoulos KC: Fractional excretion of magnesium in normal subjects and in patients with hypomagnesemia. Magnes Res 10: 315-320, 1997 (Pubitemid 127525892)
46. Naderi AS, Reilly RF Jr: Hereditary etiologies of hypomagnesemia. Nat Clin Pract Nephrol 4: 80-89, 2008
47. Bianchetti MG, Edefonti A, Bettinelli A: The biochemical diagnosis of Gitelman disease and the definition of "hypocalciuria." Pediatr Nephrol 18: 409-411, 2003
48. Mendel DB, Crabtree GR: HNF-1, a member of a novel class of dimerizing homeodomain proteins. J Biol Chem 266: 677-680, 1991
49. Groenestege WM, Thebault S, van der Wijst J, van den Berg D, Janssen R, Tejpar S, van den Heuvel LP, van Cutsem E, Hoenderop JG, Knoers NV, Bindels RJ: Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest 117: 2260-2267, 2007 (Pubitemid 47219571)
50. Schmitter D, Filkowski J, Sewer A, Pillai RS, Oakeley EJ, Zavolan M, Svoboda P, Filipowicz W: Effects of Dicer and Argonaute downregulation on mRNA levels in human HEK293 cells. Nucleic Acids Res 34: 4801-4815, 2006 (Pubitemid 44605625)
51. Gesek FA, Friedman PA: Mechanism of calcium transport stimulated by chlorothiazide in mouse distal convoluted tubule cells. J Clin Invest 90: 429-438, 1992
52. Price KL, Long DA, Jina N, Liapis H, Hubank M, Woolf AS, Winyard PJ: Microarray interrogation of human metanephric mesenchymal cells highlights potentially important molecules in vivo. Physiol Genomics 28: 193-202, 2007 (Pubitemid 46702007)
53. Summa V, Camargo SM, Bauch C, Zecevic M, Verrey F: Isoform specificity of human Na(+), K(+)-ATPase localization and aldosterone regulation in mouse kidney cells. J Physiol 555: 355-364, 2004 (Pubitemid 38379996)
54. Tronche F, Yaniv M: HNF1, a homeoprotein member of the hepatic transcription regulatory network. Bioessays 14: 579-587, 1992