Polydactyly and genes

Indian Journal of Pediatrics

Volumn 77, Issue 3, 2010, Pages 277-281

  Phadke, Shubha R ^a   Sankar, V H ^b  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^b GOVERNMENT MEDICAL COLLEGE   (India)

Author keywords

Genes in polydactyly; Genetics; GLI3; Limb development; Polydactyly

Indexed keywords

7 DEHYDROCHOLESTEROL; BONE MORPHOGENETIC PROTEIN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; FIBROBLAST GROWTH FACTOR; HOMEODOMAIN PROTEIN; MEMBRANE PROTEIN; NOGGIN; PROTEIN P63; PROTEIN PATCHED; TRANSCRIPTION FACTOR GLI3; WNT7A PROTEIN;

ACROCALLOSAL SYNDROME; BARDET BIEDL SYNDROME; BASAL CELL NEVUS SYNDROME; BBS1 GENE; BBS2 GENE; BBS3 GENE; BBS4 GENE; BBS5 GENE; BBS6 GENE; CHONDRODYSPLASIA; CHROMOSOME ANALYSIS; CREBBP GENE; CXORF5 GENE; DE LANGE SYNDROME; DHCR7 GENE; DYSOSTOSIS; EEC SYNDROME; EVC GENE; EVC2 GENE; GENE; GENE EXPRESSION; GENE INACTIVATION; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC DISORDER; GLI3 GENE; GREIG SYNDROME; HOMOZYGOSITY; HOXD13 GENE; HUMAN; HYDROLETHALUS SYNDROME; MCKUSICK KAUFMAN SYNDROME; MECKEL SYNDROME; MKKS GENE; MKS1 GENE; MOLECULAR DYNAMICS; NONHUMAN; PALLISTER HALL SYNDROME; PHENOTYPE; POLYDACTYLY; PSEUDOTRISOMY; PTCH GENE; REVIEW; TP63 GENE;

FINGERS; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; POLYDACTYLY;

EID: 77955576235     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12098-010-0033-1     Document Type: Review

References (28)

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.
3. Grzeschik KH. Human limb malformations; an approach to the molecular basis of development. Int J Dev Biol 2002;46: 983-991.
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.
5. Goodman FR. Congenital abnormalities of body patterning: embryology revisited. Lancet 2003; 362: 651-662.
6. Isphording D, Leylek AM, Yeung J, Mischel A, Simon HG. T- box genes and congenital heart/limb malformations. Clin Genet 2004;66 : 253-264.
7. Erratum in Clin Genet 2004; 66: 577.
8. Rice DP. Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med 2005; 5: 699-722. Review.
9. Cohen MM Jr. Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives. Am J Med Genet 2002; 115: 245-268. Review.
10. Pourquie O, Kusumi K. When body segmentation goes wrong. Clin Genet 2001; 60: 409-416. Review.
11. 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.
12. Nieuwenhuis E, Hui CC. Hedgehog signaling and congenital malformations. Clin Genet 2005; 67: 193-208. Review.
13. 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.
14. 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.
15. 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.
16. 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.
17. Luyten FP. Cartilage-derived morphogenetic protein-1. Int J Biochem Cell Biol 1997; 29: 1241-1244.
18. 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.
19. Phadke SR, Gautam P. Complex camptopolydactyly: an unusual hand malformation. Am J Med Genet 1999; 83: 191-192.
20. 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.
21. Katsanis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. Human Molecular Genetics 2001; 10: 2293-2299.
22. Biesecker LG. What you can learn from one gene: GLI3. J Med Genet 2006; 43: 465-469.
23. 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.
24. Fujioka H, Ariga T, Horiucbi K, Otsu M, Igawa H, Kawashima K et al. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. Clin Genet 2005; 67: 429-433.
25. 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.
26. Brunner HG, Hamel BC, Bokhoven Hv H. P63 gene mutations and human developmental syndromes. Am J Med Genet 2002; 112: 284-290.
27. Burghes AH, Vaessin HE, de La Chapelle A. The land between Mendelian and multifactorial inheritance. Science 2001; 293: 2213-2214.
28. 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.