HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

Pediatric Nephrology

Volumn 26, Issue 6, 2011, Pages 897-903

  Thomas, Rosemary ^a   Sanna Cherchi, Simone ^b,e   Warady, Bradley A ^c   Furth, Susan L ^d   Kaskel, Frederick J ^a   Gharavi, Ali G ^b,e  

^a CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c CHILDREN S MERCY HOSPITAL   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e Columbia University ^*  (United States)

Author keywords

Children; Chronic kidney disease; HNF1B; PAX2; Renal hypodysplasia

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA; TRANSCRIPTION FACTOR PAX2;

ADOLESCENT; AGE; ARTICLE; BLOOD PRESSURE; BODY MASS; CAUCASIAN; CHILD; CHROMATOGRAPHY; DISEASE COURSE; ETHNIC DIFFERENCE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC SCREENING; GLOMERULUS FILTRATION RATE; HUMAN; INFANT; KIDNEY AGENESIS; KIDNEY DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; POPULATION RESEARCH; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RENAL HYPODYSPLASIA; SCHOOL CHILD;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; INFANT; KIDNEY; KIDNEY FAILURE, CHRONIC; MALE; MUTATION; PAX2 TRANSCRIPTION FACTOR;

EID: 79959953210     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-011-1826-9     Document Type: Article

References (50)

1. Warady BA, Chadha V (2007) Chronic kidney disease in children: the global perspective. Pediatr Nephrol 22:1999-2009 (Pubitemid 350090707)
2. Hiraoka M, Tsukahara H, Ohshima Y, Kasuga K, Ishihara Y, Mayumi M (2002) Renal aplasia is the predominant cause of congenital solitary kidneys. Kidney Int 61:1840-1844 (Pubitemid 34437939)
3. Winyard P, Chitty LS (2008) Dysplastic kidneys. Semin Fetal Neonatal Med 13:142-151 (Pubitemid 351474626)
4. Klaassen I, Neuhaus TJ, Mueller-Wiefel DE, Kemper MJ (2007) Antenatal oligohydramnios of renal origin: long-term outcome. Nephrol Dial Transplant 22:432-439 (Pubitemid 46189886)
5. Ismaili K, Schurmans T,Wissing KM, Hall M, Van Aelst C, Janssen F (2001) Early prognostic factors of infants with chronic renal failure caused by renal dysplasia. Pediatr Nephrol 16:260-264 (Pubitemid 32229849)
6. Roodhooft AM, Birnholz JC, Holmes LB (1984) Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 310:1341-1345 (Pubitemid 14149084)
7. Sanna-Cherchi S, Caridi G, Weng PL, Scolari F, Perfumo F, Gharavi AG, Ghiggeri GM (2007) Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr Nephrol 22:1675-1684 (Pubitemid 47337420)
8. Heidet L, Decramer S, Pawtowski A, Moriniere V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R (2010) Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 5:1079-1090
9. 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 (2006) Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol 17:2864-2870 (Pubitemid 44484676)
10. Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, DeschenesG, Bouissou F, Bensman A, Bellanne-Chantelot C (2006) Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 17:497-503
11. Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C (2008) Hepatocyte nuclear factor-1beta gene deletions-a common cause of renal disease. Nephrol Dial Transplant 23:627-635 (Pubitemid 351767620)
12. Furth SL, Cole SR, Moxey-Mims M, Kaskel F, Mak R, Schwartz G, Wong C, Munoz A, Warady BA (2006) Design and methods of the Chronic Kidney Disease in Children (CKiD) prospective cohort study. Clin J Am Soc Nephrol 1:1006-1015
13. Schwartz GJ, Furth SL (2007) Glomerular filtration rate measurement and estimation in chronic kidney disease. Pediatr Nephrol 22:1839-1848 (Pubitemid 47506223)
14. Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN (2009) The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics 4:69-72
15. Notredame C, Higgins DG, Heringa J (2000) T-Coffee: A novel method for fast and accurate multiple sequence alignment. J Mol Biol 302:205-217
16. Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30:3894-3900 (Pubitemid 35012462)
17. Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812-3814 (Pubitemid 37442253)
18. Capriotti E, Calabrese R, Casadio R (2006) Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information. Bioinformatics 22:2729-2734 (Pubitemid 44742391)
19. Zhang C, Li WH, Krainer AR, Zhang MQ (2008) RNA landscape of evolution for optimal exon and intron discrimination. Proc Natl Acad Sci USA 105:5797-5802 (Pubitemid 351758452)
20. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C (2009) Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67
21. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR (2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 31:3568-3571 (Pubitemid 37442199)
22. Shen Y, Wu BL (2009) Designing a simple multiplex ligationdependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome. J Genet Genomics 36:257-265
23. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C (2007) Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 81:1057-1069 (Pubitemid 47580257)
24. Edghill EL, Bingham C, Ellard S, Hattersley AT (2006) Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet 43:84-90 (Pubitemid 43099997)
25. Bellanne-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noel LH, Velho G, Timsit J (2004) Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. Ann Intern Med 140:510-517
26. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285-298 (Pubitemid 34279797)
27. Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Auge J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attie-Bitach T (2000) PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet 8:820-826
28. Porteous S, Torban E, Cho NP, Cunliffe H, Chua L, McNoe L, Ward T, Souza C, Gus P, Giugliani R, Sato T, Yun K, Favor J, Sicotte M, Goodyer P, Eccles M (2000) Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. Hum Mol Genet 9:1-11 (Pubitemid 30145283)
29. Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ,Wargowski DS, France TD, Michel E, Dobyns WB (1999) Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Hum Mutat 14:369-376 (Pubitemid 29529541)
30. Eccles MR, Schimmenti LA (1999) Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. Clin Genet 56:1-9 (Pubitemid 29354006)
31. Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR (1997) Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet 60:869-878 (Pubitemid 27146495)
32. Nakayama M, Nozu K, Goto Y, Kamei K, Ito S, Sato H, Emi M, Nakanishi K, Tsuchiya S, Iijima K (2010) HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol 25:1073-1079
33. 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 (1997) Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet 17:384-385
34. Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O (1999) 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 (Pubitemid 29458726)
35. Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LI, Hattersley AT, Woolf AS (2001) 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 (Pubitemid 32880356)
36. Montoli A, Colussi G, Massa O, Caccia R, Rizzoni G, Civati G, Barbetti F (2002) Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement. Am J Kidney Dis 40:397-402 (Pubitemid 34827659)
37. Bingham C, Hattersley AT (2004) Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. Nephrol Dial Transplant 19:2703-2708 (Pubitemid 39480961)
38. Zaffanello M, Brugnara M, Franchini M, Fanos V (2008) TCF2 gene mutation leads to nephro-urological defects of unequal severity: an open question. Med Sci Monit 14:RA78-RA86 (Pubitemid 351929700)
39. Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C (2010) Mutations in the hepatocyte nuclear factor-1beta (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol 203(364):e361-e365
40. Gresh L, Fischer E, Reimann A, Tanguy M, Garbay S, Shao X, Hiesberger T, Fiette L, Igarashi P, Yaniv M, Pontoglio M (2004) A transcriptional network in polycystic kidney disease. EMBO J 23:1657-1668 (Pubitemid 38579526)
41. Hiesberger T, Bai Y, Shao X, McNally BT, Sinclair AM, Tian X, Somlo S, Igarashi P (2004) Mutation of hepatocyte nuclear factor- 1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. J Clin Invest 113:814-825 (Pubitemid 38544140)
42. Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE (2006) Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38:1038-1042 (Pubitemid 44325929)
43. Weaver RG, Cashwell LF, Lorentz W, Whiteman D, Geisinger KR, Ball M (1988) Optic nerve coloboma associated with renal disease. Am J Med Genet 29:597-605
44. Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9:358-364
45. Dressler GR, Deutsch U, Chowdhury K, Nornes HO, Gruss P (1990) Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development 109:787-795
46. Schimmenti LA, Manligas GS, Sieving PA (2003) Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet 24:191-202 (Pubitemid 37445271)
47. Cheong HI, Cho HY, Kim JH, Yu YS, Ha IS, Choi Y (2007) A clinico-genetic study of renal coloboma syndrome in children. Pediatr Nephrol 22:1283-1289 (Pubitemid 47054917)
48. Martinovic-Bouriel J, Benachi A, Bonniere M, Brahimi N, Esculpavit C, Morichon N, Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attie-Bitach T, Gubler MC (2010) PAX2 mutations in fetal renal hypodysplasia. Am J Med Genet A 152A:830-835
49. Unger S, Bohm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Bohm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J (2008) Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet 40:287-289 (Pubitemid 351311770)
50. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42:790-793