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.
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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.
Biesecker LG. Polydactyly: how many disorders and how many genes? Am J Med Genet 2002; 112: 279–283.
Grzeschik KH. Human limb malformations; an approach to the molecular basis of development. Int J Dev Biol 2002; 46: 983–991.
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.
Goodman FR. Congenital abnormalities of body patterning: embryology revisited. Lancet 2003; 362: 651–662.
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.
Rice DP. Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med 2005; 5: 699–722. Review.
Cohen MM Jr. Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives. Am J Med Genet 2002; 115: 245–268. Review.
Pourquie O, Kusumi K. When body segmentation goes wrong. Clin Genet 2001; 60: 409–416. Review.
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.
Nieuwenhuis E, Hui CC. Hedgehog signaling and congenital malformations. Clin Genet 2005; 67: 193–208. Review.
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.
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.
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.
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.
Luyten FP. Cartilage-derived morphogenetic protein-1. Int J Biochem Cell Biol 1997; 29: 1241–1244.
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.
Phadke SR, Gautam P. Complex camptopolydactyly: an unusual hand malformation. Am J Med Genet 1999; 83: 191–192.
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.
Katsanis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. Human Molecular Genetics 2001; 10: 2293–2299.
Biesecker LG. What you can learn from one gene: GLI3. J Med Genet 2006; 43: 465–469.
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.
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.
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.
Brunner HG, Hamel BC, Bokhoven Hv H. P63 gene mutations and human developmental syndromes. Am J Med Genet 2002; 112: 284–290.
Burghes AH, Vaessin HE, de La Chapelle A. Genetics. The land between Mendelian and multifactorial inheritance. Science 2001; 293: 2213–2214.
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.
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Phadke, S.R., Sankar, V. Polydactyly and genes. Indian J Pediatr 77, 277–281 (2010). https://doi.org/10.1007/s12098-010-0033-1
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DOI: https://doi.org/10.1007/s12098-010-0033-1