Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux (original) (raw)

References

  1. Weaver, R.G. et al. Optic nerve coloboma associated with renal disease. Am. J. mad. Genet. 29, 597–605 (1988).
    Article CAS Google Scholar
  2. Antignac, C. et al. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Nature Genet. 3, 342–345 (1993).
    Article CAS PubMed Google Scholar
  3. Clarke, M.P. et al. Senior-Loken syndrome. Case report of two siblings and association with sensorlneural deafness. Br. J. Ophthalmol. 76, 171–172 (1992).
    Article CAS PubMed PubMed Central Google Scholar
  4. Mann, I. The development of the human eye. 1–29 (Grune and Stratton, New York, 1928).
  5. Saxen, L. Organogenesis of the kidney. 1–34 (Cambridge University Press, Cambridge, 1987).
  6. Dressier, G.R., Deutsch, U., Chowdhury, K., Nornes, H.O. & Gruss, P. Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system. Development. 109, 787–795 (1990).
    Google Scholar
  7. Nornes, H.O., Dressier, G.R., Knapik, E.W., Deutsch, U. & Gruss, P. Spatially and temporally restricted expression of Pax2 during murine neurogenesis. Development 109, 797–809 (1990).
    CAS PubMed Google Scholar
  8. Treisman, J., Harris, E. & Desplan, C. The paired box encodes a second DNA-binding domain in the paired homeo domain protein. Genes Dev. 5, 594–604 (1991).
    Article CAS PubMed Google Scholar
  9. Gruss, P. & Walther, C. Pax in development. Cell 69, 719–722 (1992).
    Article CAS PubMed Google Scholar
  10. Tassabehji, M. et al. Waardenburgs syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355, 635–636 (1992).
    Article CAS PubMed Google Scholar
  11. Baldwin, C.T., Hoth, C.F., Amos, J.A., da-Silva, E.O. & Milunsky, A. An exonic mutation in the HuP2 paired domain gene causes Waardenburgs syndrome. Nature 355, 637–638 (1992).
    Article CAS PubMed Google Scholar
  12. Jordan, T. et al. The human PAX6 gene is mutated in two patients with aniridia. Nature Genet. 1, 328–332 (1992).
    Article CAS PubMed Google Scholar
  13. Ton, C.C.T. et al. Positional cloning and characterization of a paired box-and homeobox-containing gene from the aniridia region. Cell. 67, 1059–1074 (1991).
    Article CAS PubMed Google Scholar
  14. Glaser, T., Walton, D.S. & Maas, R.L. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. _Nature._Genet. 2, 232–238 (1992).
    CAS Google Scholar
  15. Barr, F.G. et al. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nature Genet. 3, 113–117 (1993).
    Article CAS PubMed Google Scholar
  16. Eccles, M.R. et al. Expression of the PAX2 gene in human fetal kidney and Wilms Tumor. Cell Growth Diff. 3, 279–289 (1992).
    CAS PubMed Google Scholar
  17. Stapleton, P., Weith, A., Urbanek, P., Kozmik, Z. & Busslinger, M. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Nature Genet. 3, 292–298 (1993).
    Article CAS PubMed Google Scholar
  18. Dressier, G.R. et al. Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities. Nature 362, 65–67 (1993).
    Article Google Scholar
  19. Rothenpieler, U.W. & Dressier, G.R. _Pax-2_is required for mesenchyme-to-epithelium conversion during kidney development. Development 119, 711–720 (1993).
    CAS PubMed Google Scholar
  20. Keller, S.A. et al. Kidney and retinal defects (Krd), a transgene induced mutation with a deletion of mouse chromosome 19 that includes the Pax-2 locus. Genomics 23, 309–320 (1994).
    Article CAS PubMed Google Scholar
  21. Fisher, E. & Scambler, P. Human haploinsufficiency — one for sorrow, two for joy. Nature Genet. 7, 5–7 (1994).
    Article CAS PubMed Google Scholar
  22. Ward, T.A., Nebel, A., Reeve, A.E. & Eccles, M.R. Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene. Cell Growth Diff. 5, 1015–1021 (1994).
    CAS PubMed Google Scholar
  23. Kozmik, Z., Kurzbauer, R., Dorfler, P. & Busslinger, M. Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties. Molec. cell. Blol. 13, 6024–6035 (1993).
    Article CAS Google Scholar
  24. Eccles, M.R., Yun, K., Reeve, A.E & Fldler, A.E. Comparative In situ Hybridization analysis of PAX2, PAX8, and WT1 gene transcription in human fetal kidney and Wilms tumors. Am. J. Pathol. 146, 40–45 (1995).
    CAS PubMed PubMed Central Google Scholar
  25. Plachov, D. et al. Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland. Development 110, 643–651 (1990).
    CAS PubMed Google Scholar
  26. Pierpont, J.W. & Erickson, R.P. Facts on PAX. Am. J. hum. Genet. 52, 451–454 (1993).
    CAS PubMed PubMed Central Google Scholar
  27. Püschel, A.W., Wests-field, M. & Dressier, G.R. Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafish. Mech. Devel. 38, 197–208 (1992).
    Article Google Scholar
  28. Phelps, D.E. & Dressier, G.R. Aberrant expression of Pax-2 in Danforths Short Tail (Sd) Mice. Dev. Biol., 157, 251–258 (1993).
    Article CAS PubMed Google Scholar
  29. Balling, R., Deutsch, U. & Gruss, P. Undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1. Cell 55, 531–535 (1988).
    Article CAS PubMed Google Scholar
  30. Epstein, D.J., Vekemans, M. & Gross, P. splotch. (SP2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67, 767–774 (1991).
    Article CAS PubMed Google Scholar
  31. Hill, R.E. et al. Mouse Small eye results from mutations in a paired-tike homeobox-containing gene. Nature 354, 522–525 (1991).
    Article CAS PubMed Google Scholar
  32. Cohen, J., Burne, J.F., McKinlay, C. & Winter, J. The role of laminin and the laminin/fibronectin receptor complex in the outgrowth of retinal ganglion cell axons. Dev. Biol. 122, 407–418 (1987).
    Article CAS PubMed Google Scholar
  33. Chalepakis, G., Goulding, M., Read, A., Strachan, T. & Gruss, P. Molecular basis of Splotch and Waardenburg Pax-3 mutations. Proc. natn. Acad. Sci. U. S. A. 91, 3685–3689 (1994).
    Article CAS Google Scholar
  34. Tassabehji, M. et al. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nature Genet. 3, 26–30 (1992).
    Article Google Scholar
  35. Hanson, I.M. et al. _PAX6_mutations in aniridia. Hum. molec. Genet. 2, 915–920 (1993).
    Article CAS PubMed Google Scholar
  36. Davis, A. & Cowell, J.K. Mutations in the PAX6 gene in patients with hereditary aniridia. Hum. molec. Genet. 2, 2093–2097 (1993).
    Article CAS PubMed Google Scholar
  37. Pagon, R.A., Graham, J.M. Jr. & Zonana, J., Yong, S.-L. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J. Pediat. 99, 223–227 (1981).
    Article CAS PubMed Google Scholar
  38. Leppert, M. et al. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nature Genet. 7, 108–112 (1994).
    Article CAS PubMed Google Scholar
  39. Reiger, G. Zum Krankheitsbild der Handmannschen Sehnervenanomalie: Windenbluten-(Morning Glory) Syndrom? Klin. Mbl. Augenheilk. 170, 697–706 (1977).
    Google Scholar
  40. Karcher, H. Zum Morning glory syndrome. Klin. Mbl. Augenheilk. 175, 835–840 (1979).
    CAS PubMed Google Scholar
  41. Legros, Y., Carrenard, J.R., Cortes, F.M., Sanchez, J.M. Sindrome de “ojo de gato” con agenesia renal derecha. Aportacion de un caso y revision de la literatura. An. Esp. Pediatr. 36, 317–319 (1992).
    Google Scholar
  42. Bron, A.J., Burgess, S.E., Awdry, P.N., Oliver, D., Arden & G. Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature. Ophthalmic Paediatr. Genet. 10, 185–198 (1989).
    Article CAS PubMed Google Scholar
  43. Pagon, R.A. Ocular coloboma. Surv. Ophth. 25, 223–236 (1981).
    Article CAS Google Scholar
  44. Grossberger, D. Minipreps of DNA from bacteriophage lambda. Nucl. Acids Res. 15, 6737 (1987).
    Article CAS PubMed PubMed Central Google Scholar
  45. Sambrook, J., Fritsch, E.F., Maniatis, T. Molecular Cloning. A Laboratory Manual. 2nd edn. (Cold Spring Harbor Laboratory Press, New York, 1989).
    Google Scholar
  46. Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874–879 (1989).
    Article CAS PubMed Google Scholar

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