Skip to main content
Log in

Polydactyly and genes

  • Special Article
  • Published:
The Indian Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Pediatricians deal with cases with the congenital malformations and malformation syndromes interest many of them. A lot of information about genes involved in development is available now. Genetics of hand development and genes involved in polydactyly syndromes is discussed in this article as a prototype to know about genetics of malformations: how it is studied and what is known. Genetic and chromosomal defects are often associated with congenital malformations. Polydactyly is one of the commonly seen malformations and genetic defects of many malformation syndromes associated with polydactyly are known. The role of genetic defect in polydactyly syndromes and the correlation between genotypes and phenotypes is discussed in this review article.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Manouvrier-Hanu S. Limb developmental anomalies: Genetics. In Cooper David N, ed. Nature encyclopedia of the human genome. Vol. 3., Macmillan Publishers Ltd, 2003; 696–703.

  2. Biesecker LG. Polydactyly: how many disorders and how many genes? Am J Med Genet 2002; 112: 279–283.

    Article  PubMed  Google Scholar 

  3. Grzeschik KH. Human limb malformations; an approach to the molecular basis of development. Int J Dev Biol 2002; 46: 983–991.

    CAS  PubMed  Google Scholar 

  4. Talamillo A, Bastida MF, Fernandez-Teran M, Ros MA. The developing limb and the control of the number of digits. Clin Genet 2005; 67: 143–153.

    Article  CAS  PubMed  Google Scholar 

  5. Goodman FR. Congenital abnormalities of body patterning: embryology revisited. Lancet 2003; 362: 651–662.

    Article  PubMed  Google Scholar 

  6. Isphording D, Leylek AM, Yeung J, Mischel A, Simon HG. Tbox genes and congenital heart/limb malformations. Clin Genet 2004; 66: 253–264. Erratum in Clin Genet 2004; 66: 577.

    Article  CAS  PubMed  Google Scholar 

  7. Rice DP. Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med 2005; 5: 699–722. Review.

    Article  CAS  PubMed  Google Scholar 

  8. Cohen MM Jr. Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives. Am J Med Genet 2002; 115: 245–268. Review.

    Article  PubMed  Google Scholar 

  9. Pourquie O, Kusumi K. When body segmentation goes wrong. Clin Genet 2001; 60: 409–416. Review.

    Article  CAS  PubMed  Google Scholar 

  10. Martinez-Frias ML. Segmentation anomalies of the vertebras and ribs: one expression of the primary developmental field. Am J Med Genet A 2004; 128: 127–131.

    Article  Google Scholar 

  11. Nieuwenhuis E, Hui CC. Hedgehog signaling and congenital malformations. Clin Genet 2005; 67: 193–208. Review.

    Article  CAS  PubMed  Google Scholar 

  12. Villavicencio EH, Walterhouse DO, Iannaccone PM. The sonic hedgehog-patched-gli pathway in human development and disease. Am J Hum Genet 2000; 67: 1047–1054.

    CAS  PubMed  Google Scholar 

  13. Loomis CA, Kimmel RA, Tong CX, Michaud J, Joyner AL. Analysis of the genetic pathway leading to formation of ectopic apical ectodermal ridges in mouse Engrailed-1 mutant limbs. Development 1998; 125: 1137–1148.

    CAS  PubMed  Google Scholar 

  14. Dreyer SD, Zhou G, Baldini A et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998; 19: 47–50.

    Article  CAS  PubMed  Google Scholar 

  15. Marcelino J, Sciortino CM, Romero MF et al. Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding. Proc Natl Acad Sci USA 2001; 98: 11353–11358. Epub 2001 Sep 18.

    Article  CAS  PubMed  Google Scholar 

  16. Luyten FP. Cartilage-derived morphogenetic protein-1. Int J Biochem Cell Biol 1997; 29: 1241–1244.

    Article  CAS  PubMed  Google Scholar 

  17. Temtamy S, Mckussick V. Polydactyly as an isolated malformation. In Temtamy S, Mckussick V, eds. The genetics of hand malformations. Birth defects. New York: Alan R Liss, Inc., 1978; 14: 364–392.

    Google Scholar 

  18. Phadke SR, Gautam P. Complex camptopolydactyly: an unusual hand malformation. Am J Med Genet 1999; 83: 191–192.

    Article  CAS  PubMed  Google Scholar 

  19. Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 1996; 272: 548–551.

    Article  CAS  PubMed  Google Scholar 

  20. Katsanis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. Human Molecular Genetics 2001; 10: 2293–2299.

    Article  CAS  PubMed  Google Scholar 

  21. Biesecker LG. What you can learn from one gene: GLI3. J Med Genet 2006; 43: 465–469.

    Article  CAS  PubMed  Google Scholar 

  22. Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005; 76: 609–622.

    Article  CAS  PubMed  Google Scholar 

  23. Fujioka H, Ariga T, Horiuchi K, Otsu M, Igawa H, preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. Clin Genet 2005; 67: 429–433.

    Article  CAS  PubMed  Google Scholar 

  24. Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H et al. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 1999; 65: 645–655.

    Article  CAS  PubMed  Google Scholar 

  25. Brunner HG, Hamel BC, Bokhoven Hv H. P63 gene mutations and human developmental syndromes. Am J Med Genet 2002; 112: 284–290.

    Article  PubMed  Google Scholar 

  26. Burghes AH, Vaessin HE, de La Chapelle A. Genetics. The land between Mendelian and multifactorial inheritance. Science 2001; 293: 2213–2214.

    Article  CAS  PubMed  Google Scholar 

  27. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001; 293(5538): 2256–2259.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Shubha R. Phadke.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Phadke, S.R., Sankar, V. Polydactyly and genes. Indian J Pediatr 77, 277–281 (2010). https://doi.org/10.1007/s12098-010-0033-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12098-010-0033-1

Key words

Navigation