Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome (original) (raw)

References

  1. Olson, E.N. & Srivastava, D. Molecular pathways controlling heart development. Science 272, 671–676 (1996).
    Article CAS Google Scholar
  2. Park, M., Wu, X., Golden, K., Axelrod, J.D. & Bodmer, R. The wingless signaling pathway is directly involved in Drosophila heart development. Develop. Biol. 177, 104–116 (1996).
    Article CAS Google Scholar
  3. Levin, M., Johnson, R.L., Stern, C.D., Kuehn, M. & Tabin, C. A molecular pathway determining left-right asymmetry in chick embryogenesis. Cell 82, 803–814 (1995).
    Article CAS Google Scholar
  4. Rossant, J. Mouse mutants and cardiac development. Circ. Res. 78, 349–353 (1996).
    Article CAS Google Scholar
  5. Huang, J.X., Potts, J.D., Vincent, E.B., Weeks, D.L. & Runyan, R.B. Mechanisms of cell transformation in the embryonic heart. Ann. NY Acad. Sci. 752, 217–330 (1995).
    Article Google Scholar
  6. D'Alton, M.E. & DeCherney, A.M. Prenatal diagnosis. New Engl. J.Med. 328, 114–120 (1993).
    Article CAS Google Scholar
  7. Basson, C.T. . et al. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). New Engl. J. Med. 330, 885–891 (1994).
    Article CAS Google Scholar
  8. Holt, M. & Oram, S. Familial heart disease with skeletal malformations. Br. Heart J. 22, 236–242 (1960).
    Article CAS Google Scholar
  9. Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 142900:9/7/96. World Wide Web URL:. http://www3.ncbi.nlm.nih.gov/omim/.
  10. Gall, J.C., Stern, A.M., Cohen, M.M., Adams, M.S. & Davidson, R.T. (1966). Holt-Oram syndrome: clinical and genetic study of a large family. Am. J. Hum. Genet. 18, 187–200 (1966).
    PubMed PubMed Central Google Scholar
  11. Hurst, J.A., Hall, C.M. & Baraitser, M., Holt-Oram syndrome. J. Med. Genet. 28, 406–410 (1991).
    Article CAS Google Scholar
  12. Kullman, F. & Grimm, T., h. med. Wochenschr. 118, 1455–1462 (1993).
    Article Google Scholar
  13. Letts, R.M., Chudley, A.E., Cumming, G. & Shokier, M.H. The upper limb-cardiovascular syndrome (Holt-Oram syndrome). Clin. Orthop. Relat Res. 116, 149–154 (1976).
    Google Scholar
  14. Pruznanski, W. Familial congenital malformations of the heart and upper limbs. A syndrome of Holt-Oram. Cardiologia 45, 1–38 (1964).
    Google Scholar
  15. Ruzic, B., Bosnar, B. & Beleznay, O. Ein seltener herzfehler als symptom des Holt-Oram-Syndroms. Radiologe 21, 296–299 (1981).
    CAS PubMed Google Scholar
  16. Sahn, D.J., Goldberg, S.J., Alien, H.D. & Canale, J.M. Cross-sectional echocardiographic imaging of supracardiac total anomalous pulmonary venous drainage to a vertical vein in a patient with Holt-Oram syndrome. Chest 79, 113–115 (1981).
    Article CAS Google Scholar
  17. Smith, A.T., Sack, G.H. & Taylor, G.J. Holt-Oram syndrome. J. Pediatr. 95, 538–543 (1979).
    Article CAS Google Scholar
  18. Starke, H., Schimke, R.N. & Dunn, M. Upper-limb cardiovascular syndrome. Am. J. Cardio. 19, 588–592 (1967).
    Article CAS Google Scholar
  19. Zhang, K.Z., Sun, Q.B. & Cheng, T.O. Holt-Oram syndrome in China: a collective review of 18 cases. Am. Heart J. 111, 572–577 (1986).
    Article CAS Google Scholar
  20. Basson, C.T. et al. Genetic heterogeneity of heart-hand syndromes. Circulation 91, 1326–1329 (1995).
    Article CAS Google Scholar
  21. Bonnet, D. et al.A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nature Genet. 6, 405–408 (1994).
    Article CAS Google Scholar
  22. Terrett, J.A. . et al. Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nature Genet. 6, 401–404 (1994).
    Article CAS Google Scholar
  23. LeBlanc-Straceski, J.M. . et al. Twenty-one polymorphic markers from human chromosome 12 for integration of genetic and physical maps. Genomics 19, 341–349 (1994).
    Article CAS Google Scholar
  24. Foote, S. Construction of YAC libraries with large inserts in Current Protocols in Human Genetics (Eds Dracopoli, N. C. et al.) 5.2.2–5.2.20 (John Wiley and Sons,New York 1996).
    Google Scholar
  25. Sternberg, N. & Shepherd, N.S. Construction of P1 bacteriophage libraries with large inserts in Current Protocols in Human Genetics (eds Dracopoli, N. C.) 5.3.1–5.3.26 (John Wiley and Sons, New York, 1996).
    Google Scholar
  26. Buckler, A.J. . et al.Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. USA 88, 4005–1009 (1991).
    Article CAS Google Scholar
  27. GDB (TM) Genome Database [database online].Baltimore (Maryland, USA): Johns Hopkins University, 1990-. Updated daily, [cited 29 April 1996]. GDB Data Type: Linkage map. Accession ID: gdb:1217496. Available from Internet: <URL:http://gdbwww.gdb.org/>.
  28. Agulnik, S.I. . et al. Evolution of Mouse T-box genes by tandem duplication and cluster dispersion. Genetics 144, 249–254 (1996).
    CAS PubMed PubMed Central Google Scholar
  29. Bollag, R.J. et al. An ancient family of embryonically expressed genes sharing a conserved protein motif with the T locus. Nature Genet. 7, 383–389 (1994).
    Article CAS Google Scholar
  30. Bulfone, A. . et al.T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains with the cerebral cortex. Neuron 15, 63–78 (1995).
    Article CAS Google Scholar
  31. Campbell, C., Goodrich, K., Casey, G. & Beatty, B. Cloning and mapping of a human gene (TBX2) sharing a highly conserved protein motif with the Drosophila omb gene. Genomics 28,255–260 (1995).
    Article CAS Google Scholar
  32. Edwards, Y.H. et al. The human homolog T of the mouse T(Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27. Genome Res. 6, 226–233 (1996).
    Article CAS Google Scholar
  33. Herrmann, B.G. & Kispert, A. The T genes in embryogenesis. Trends Genet. 10, 280–286 (1994).
    Article CAS Google Scholar
  34. Kispert, A., & Herrmann, B.G. The T protein encoded by Brachyury is a tissue-specific transcription factor. EMBO J. 14, 4763–4772 (1995).
    Article CAS Google Scholar
  35. Law, D.J., Garvey, N., Agulnik, S.I. & Silver, L.M. Identification, characterization and localization to chromosome 17q21–22 of the human TBX2 homolog, member of a conserved developmental gene family. Mamm. Genome 6, 793–797 (1995).
    Article CAS Google Scholar
  36. Kozak, M. Interpreting cDNA sequences: some insights from, studies on translation. Mamm. Genome 7, 563–574 (1996).
    Article CAS Google Scholar
  37. Grimm, S. & Pflugfelder, G.O. Control of the gene optomotor-blind in Drosophila wing development by decapentaplegic and wingless. Science 271, 1601–1604 (1996).
    Article CAS Google Scholar
  38. Satoh, N. & Jeffery, W.R. Chasing tails in ascidians: developmental insights into the origin and evolution of chordates. Trends Genet. 11, 354–359 (1995).
    Article CAS Google Scholar
  39. Terrett, J.A. et al. Atranslocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene. Am. J. Hum. Genet. 59, 1337–1342 (1996).
    CAS PubMed PubMed Central Google Scholar
  40. Chapman, D.L. et al. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Devlop. Dyn. 206, 379–390 (1996).
    Article CAS Google Scholar
  41. Gibson-Brown, J.J. et al. Evidence of a role for T-box genes in the evolution of limb morphogenesis and specification of forelimb/hindlimb identity. Mech. Develop. 56, 93–101 (1996).
    Article CAS Google Scholar
  42. Cohn, M.J. & Tickle, C. Limbs: a model for pattern formation within the vertebrate body plan. Trends Genet. 12, 253–257 (1996).
    Article CAS Google Scholar
  43. Lawrence, P.A. & Struhl, G., Morphogens, compartments and pattern: lessons from Drosophila. Cell. 85, 951–961 (1996).
    Article CAS Google Scholar
  44. Nellen, D., Burke, R., Struhl, G. & Basler, K. Direct and long-range action of a DPP morphogen gradient. Cell 85, 357–368 (1996).
    Article CAS Google Scholar
  45. Ott, J. A computer program for linkage analysis of general human pedigrees. Am. J. Hum. Genet. 28, 528–529 (1967).
    Google Scholar
  46. Wesley, C.S., Meyers, M.P. & Young, M.W. Rapid sequential walking from termini of cosmid, P1 and YAC inserts. Nucl. Acids Res. 22, 538–539 (1993).
    Article Google Scholar
  47. Thierfelder, L., et al. α-Troposmyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 77, 701–712 (1994).
    Article Google Scholar

Download references