Journal of Pediatric Urology
Volume 3, Issue 1 , Pages 2-9 , February 2007

Mutational analyses of UPIIIA, SHH, EFNB2, and HNF1β in persistent cloaca and associated kidney malformations

  • Dagan Jenkins

      Affiliations

    • Nephro-Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WCIN IEH, UK
  • ,
  • Maria Bitner-Glindzicz

      Affiliations

    • Nephro-Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WCIN IEH, UK
  • ,
  • Louise Thomasson

      Affiliations

    • Nephro-Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WCIN IEH, UK
  • ,
  • Sue Malcolm

      Affiliations

    • Nephro-Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WCIN IEH, UK
  • ,
  • Stephanie A. Warne

      Affiliations

    • Nephro-Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WCIN IEH, UK
  • ,
  • Sally A. Feather

      Affiliations

    • St James' University Hospital, Leeds, UK
  • ,
  • Sarah E. Flanagan

      Affiliations

    • Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
  • ,
  • Sian Ellard

      Affiliations

    • Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
  • ,
  • Coralie Bingham

      Affiliations

    • Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
  • ,
  • Lane Santos

      Affiliations

    • Univesity of Texas Southwestern Medical Center at Dallas, TX, USA
  • ,
  • Mark Henkemeyer

      Affiliations

    • Univesity of Texas Southwestern Medical Center at Dallas, TX, USA
  • ,
  • Andrew Zinn

      Affiliations

    • Univesity of Texas Southwestern Medical Center at Dallas, TX, USA
  • ,
  • Linda A. Baker

      Affiliations

    • Univesity of Texas Southwestern Medical Center at Dallas, TX, USA
  • ,
  • Duncan T. Wilcox

      Affiliations

    • Univesity of Texas Southwestern Medical Center at Dallas, TX, USA
  • ,
  • Adrian S. Woolf

      Affiliations

    • Nephro-Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WCIN IEH, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 20 7905 2615; fax: +44 20 7905 2133.

Received 6 October 2005 ,Accepted 1 March 2006.

References 

  1. Grutzner F, Graves JA. A platypus' eye view of the mammalian genome. Curr Opin Genet Dev. 2004;14:642–649
  2. Forrester MB, Merz RD. Impact of excluding cases with known chromosomal abnormalities on the prevalence of structural birth defects, Hawaii, 1986–1999. Am J Med Genet A. 2004;128:383–388
  3. Warne SA, Wilcox DT, Ransley PG. Long-term urological outcome in patients presenting with persistent cloaca. J Urol. 2002;168:1859–1862
  4. Warne SA, Wilcox DT, Creighton S, Ransley PG. Long-term gynecological outcome of patients with persistent cloaca. J Urol. 2003;170:1493–1496
  5. Warne SA, Godley ML, Wilcox DT. Surgical reconstruction of cloacal malformations can alter bladder function: a comparative study with anorectal anomalies. J Urol. 2004;172:2377–2381
  6. Warne SA, Wilcox DT, Ledermann SE, Ransley PG. Renal outcome in patients with cloaca. J Urol. 2002;167:2548–2551
  7. Rink RC, Herndon CD, Cain MP, et al. Upper and lower urinary tract outcome after surgical repair of cloacal malformations: a three decade experience. BJU Int. 2005;96:131–134
  8. Kim J, Kim P, Hui CC. The VACTERL association: lessons from the Sonic hedgehog pathways. Clin Genet. 2001;59:306–315
  9. Woolf AS, Welham SJM, Hermann MM, Winyard PJD. Maldevelopment of the human kidney and lower urinary tract: an overview. In:  Vize PD,  Woolf AS,  Bard JBL editor. The Kidney:from Normal Development to Congenital Disease. Elsevier Science/Academic Press; 2003;p. 377–393
  10. Nievelstein RA, Van Der Werff JF, Verbeek FJ, et al. Normal and abnormal embryonic development of the anorectum in human embryos. Teratology. 1998;57:70–78
  11. Qi BG, Beasley SW, Williams AK, Frizelle F. Does the urorectal septum fuse with the cloacal membrane?. J Urol. 2000;164:2070–2072
  12. Penington EC, Hutson JM. The cloacal plate: the missing link in anorectal and urogenital development. BJU Int. 2002;89:726–732
  13. Sasaki C, Yamaguchi K, Akita K. Spatiotemporal distribution of apoptosis during normal cloacal development in mice. Anat Rec A Discov Mol Cell Evol Biol. 2004;279A:761–767
  14. Simpson JL. Genetics of the female reproductive tract. Am J Med Genet. 1999;89:224–239
  15. Shapiro E, Huang HY, Wu XR. Uroplakin and androgen receptor expression in the human fetal genital tract: insights into the development of the vagina. J Urol. 2000;164:1048–1051
  16. Gillick J, Mooney E, Giles S, et al. Notocord anomalies in the adriamycin rat model: a morphologic and molecular basis for the VACTERL association. J Pediatr Surg. 2003;38:469–473
  17. Sasaki Y, Iwai N, Tsuda T, Kimura O. Sonic hedgehog and bone morphogenetic protein 4 expressions in the hindgut region of murine embryo with anorectal malformations. J Pediatr Surg. 2004;39:170–173
  18. Miller M, Kaufman G, Reed G, et al. Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21. Am J Med Genet. 1979;4:323–332
  19. Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet. 2000;37:321–335
  20. Jenkins D, Bitner-Glindzicz M, Malcolm S, et al. De novo uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephrol. 2005;16:2141–2149
  21. Odent S, Atti-Bitach T, Blayau M, et al. Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet. 1999;8:1683–1689
  22. Yu J, Carroll TJ, McMahon AP. Sonic hedgehog regulates proliferation and differentiation of mesenchymal cells in the mouse metanephric kidney. Development. 2002;129:5301–5312
  23. Mo R, Kim JH, Zhang J, et al. Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol. 2001;159:765–774
  24. Dravis C, Yokoyama N, Chumley MJ, et al. Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development. Dev Biol. 2004;271:272–290
  25. Coffinier C, Barra J, Babinet C, Yaniv M. Expression of the vHNF/HNF1β gene during mouse organogenesis. Mech Dev. 1999;89:211–213
  26. Kolatsi-Joannou M, Bingham C, Ellard S, et al. Hepatocyte nuclear factor 1β: a new kindred with renal cysts and diabetes, and gene expression in normal human development. J Am Soc Nephrol. 2001;12:2175–2180
  27. Bingham C, Ellard S, Cole TR, et al. Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1β mutations. Kidney Int. 2002;61:1243–1251
  28. Bellane-Chantelot C, Chauveau D, Gautier JF, et al. Clinical spectrum associated with hepatocyte nuclear factor-1β mutations. Ann Intern Med. 2004;140:510–517
  29. Edghill EL, Bingham C, Ellard S, Hattersley AT. Mutations in hepatocyte nuclear factor-1β and their related phenotypes. J Med Genet. 2006;43:84–90
  30. Jiang S, Gitlin J, Deng FM, et al. Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. Kidney Int. 2004;66:10–19
  31. Apodaca G. The urothelium: not just a passive barrier. Traffic. 2004;5:117–128
  32. Hu CC, Liang FX, Zhou G, et al. Assembly of urothelial plaques: tetraspanin function in membrane protein trafficking. Mol Biol Cell. 2005;16:3937–3950
  33. Kong XT, Deng FM, Hu P, et al. Roles of uroplakins in plaque formation, umbrella cell enlargement, and urinary tract diseases. J Cell Biol. 2004;167:1195–1204
  34. Hu P, Deng FM, Liang FX, et al. Ablation of uroplakin III gene results in small urothelial plaques, urothelial leakage, and vesicoureteral reflux. J Cell Biol. 2000;151:961–972
  35. Sakakibara K, Sato K, Yoshino K, et al. Molecular identification and characterization of Xenopus egg uroplakin III, an egg raft-associated transmembrane protein that is tyrosine-phosphorylated upon fertilization. J Biol Chem. 2005;280:15029–15037
  36. Mill P, Mo R, Hu MC, et al. Shh controls epithelial proliferation via independent pathways that converge on N-Myc. Dev Cell. 2005;9:293–303
  37. Dubourg C, Lazaro L, Pasquier L, et al. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations. Hum Mutat. 2004;24:43–51
  38. Hehr U, Gross C, Diebold U, Wahl D, et al. Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. Eur J Pediatr. 2004;163:347–352
  39. Flanagan JG, Vanderhaeghen P. The ephrins and Eph receptors in neural development. Annu Rev Neurosci. 1998;21:309–345
  40. Pasquale EB. Eph receptor signalling casts a wide net on cell behaviour. Nat Rev Mol Cell Biol. 2005;6:462–475
  41. Cowan CA, Henkemeyer M. Ephrins in reverse, park and drive. Trends Cell Biol. 2002;12:339–346
  42. Twigg SR, Kan R, Babbs C, et al. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci USA. 2004;101:8652–8657
  43. Hagan DM, Ross AJ, Strachan Y, et al. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome triad. Am J Med Genet. 2000;66:1504–1515
  44. Goodman FR, Bacchelli C, Brady AF, et al. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Hum Mol Genet. 2000;67:197–202
  45. Warot X, Fromental-Ramain C, Fraulob V, et al. Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts. Development. 1997;124:4781–4791
  46. Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ. A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman. N Engl J Med. 2004;351:792–798
  47. Slavotinek AM, Biesecker LG. Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review. Am J Med Genet. 2000;95:208–215
  48. Snijders AM, Pinkel D, Albertson DG. Current status and future prospects of array-based comparative genomic hybridisation. Brief Funct Genomic Proteomic. 2003;2:37–45

PII: S1477-5131(06)00056-8

doi: 10.1016/j.jpurol.2006.03.002

Journal of Pediatric Urology
Volume 3, Issue 1 , Pages 2-9 , February 2007