medigraphic.com
ISSN 2007-087X (Impreso)
Órgano Oficial de la Sociedad Mexicana de Ortopedia Pediátrica

2011, Número 1

<< Anterior Siguiente >>

Rev Mex Ortop Ped 2011; 13 (1)


Etiología molecular del pie equino varo aducto congénito

Torres-Gómez A, Saleme CJ

Idioma: Español
Referencias bibliográficas: 47
Paginas: 5-9
Archivo PDF: 108.16 Kb.


RESUMEN

El pie equinovaro aducto congénito (PEVAC) es la malformación musculoesquelética congénita más frecuente, sin embargo se desconoce su etiología. Recientemente se ha descrito un posible papel etiológico de los genes hox PITX1. TBX4 es otro gen candidato que actúa cascada arriba de PITX1. Ambos están involucrados en la diferenciación de los miembros pélvicos. El objetivo de este texto es revisar los aspectos moleculares de la morfogénesis, así como la etiología molecular del PEVAC y el papel de las variantes genéticas recientemente descritas de los genes homeóticos PITX1 y TBX4 en su etiología en la población general. Recientes estudios realizados en pacientes con esta patología de manera aislada y con historia familiar positiva han mostrado que existen variantes génicas que involucran este par de genes, están asociadas con el PEVAC


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Carey M, Bower C, Mylvaganam A, Rouse I. Talipes equinovarus in western Australia. Paediatr Perinat Epidemiol 2003; 17: 187-194.

  2. Cardy AH, Barker S, Chesney D, Sharp L, Maffulli N, Miedzybrodzka Z. Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study. BMC Musculoskelet Disord 2007; 8: 62.

  3. Lochmiller C, Johnston D, Scott A, Risman M, Hecht JT. Genetic epidemiology study of idiopathic talipes equinovarus. Am J Med Genet 1998; 79: 90–96.

  4. Wilkinson JA. Prime factors in the etiology of congenital dislocation of the hip. J Bone Jt Surg 1963; 45B: 268.

  5. Wynne-Davies R. Family studies and aetiology of club foot. J Med Genet 1965; 2(4): 227-32.

  6. Robertson WW Jr, Corbett D. Congenital clubfoot. Month of conception. Clin Orthop Relat Res 1997; (338): 14-8.

  7. Loder RT, Drvaric DM, Carney B, Hamby Z, Barker S, Chesney D, Maffulli N. Lack of seasonal variation in idiopathic talipes equinovarus. J Bone Joint Surg Am 2006; 88(3): 496-502.

  8. Carney BT, Coburn TR. Demographics of idiopathic clubfoot: is there a seasonal variation? J Pediatr Orthop 2005; 25(3): 351-2.

  9. Miedzybrodzka Z. Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand. J Anat 2003; 202: 37-42.

  10. Wynne-Davies R. Genetic and environmental factors in the etiology of talipes equinovarus. Clin Orthop Relat Res 1972; 84: 9-13.

  11. Czeizel A, Bellyei A, Kránicz J, Mocsai L, Tusnády G. Confirmation of the multifactorial threshold model for congenital structural talipes equinovarus. J Med Genet 1981; 18(2): 99-100.

  12. Wang JH, Palmer RM, Chung CS., The role of major gene in clubfoot. Am J Hum Genet 1988; 42(5): 772-6.

  13. Miedzybrodzka Z. Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand. J Anat 2003; 202(1): 37-42.

  14. Rebbeck TR, Dietz FR, Murray JC, Buetow KH. A single-gene explanation for the probability of having idiopathic talipes equinovarus. Am J Hum Genet. 1993; 53(5): 1051-63.

  15. Lochmiller C, Johnston D, Scott A, Risman M, Hecht JT., Genetic epidemiology study of idiopathic talipes equinovarus. Am J Med Genet 1998; 79(2): 90-6.

  16. Cardy AH, Barker S, Chesney D, Sharp L, Maffulli N, Miedzybrodzka Z. Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study. BMC Musculoskelet Disord 2007; 8: 62.

  17. Skelly AC, Holt VL, Mosca VS, Alderman BW. Talipes equinovarus and maternal smoking: a population-based case-control study in Washington state. Teratology 2002; 66(2): 91-100.

  18. Dickinson KC, Meyer RE, Kotch J. Maternal smoking and the risk for clubfoot in infants. Birth Defects Res A Clin Mol Teratol 2008; 82(2): 86-91.

  19. Westberry DE, Davids JR, Pugh LI., Clubfoot and developmental dysplasia of the hip: value of screening hip radiographs in children with clubfoot. J Pediatr Orthop 2003; 23(4): 503-7.

  20. Carney BT, Vanek EA. Incidence of hip dysplasia in idiopathic clubfoot. J Surg Orthop Adv 2006; 15(2): 71-3.

  21. Caskey PM, Lester EL. Association of fibular hemimelia and clubfoot. J Pediatr Orthop 2002; 22(4): 522-5.

  22. Pazonyi I, Kun A, Czeizel A. Congenital postural deformity association. Acta Paediatr Acad Sci Hung 1982; 23(4): 431-45.

  23. Sugarman GI. The Larsen syndrome, autosomal dominant form. Birth Defects Orig Artic Ser 1975; 11(2): 121-9.

  24. Ferrari D, Bettuzzi C, Donzelli O, Freeman-Sheldon syndrome a case report and review of the literature. Chir Organi Mov 2008; 92(2): 127-31.

  25. Hollister DW, Lachman RS., Diastrophic dwarfism. Clin Orthop Relat Res 1976; (114): 61-9.

  26. Bernstein RM. Arthrogryposis and amyoplasia. J Am Acad Orthop Surg 2002; 10(6): 417-24.

  27. Chang CH, Huang SC. Clubfoot deformity in congenital constriction band syndrome: manifestations and treatment. J Formos Med Assoc 1998; 97(5): 328-34.

  28. Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet 2008; 82(6): 1368-74.

  29. Wang LL, Fu WN, Li-Ling J, Li ZG, Li LY, Sun KL. HOXD13 may play a role in idiopathic congenital clubfoot by regulating the expression of FHL1. Cytogenet Genome Res 2008; 121(3-4): 189-95.

  30. Alberts B, Johnson A, Lewis J, Raff M, Roberts K, Walter P. Molecular Biology of the Cell. Fourth Edition. New York: Garland. 2002: 3032-3037.

  31. Ibídem 2955.

  32. Shang J, Li X, Ring HZ, Clayton DA, Francke U. Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft). Genomics 1997; 40(1): 108-13.

  33. Szeto DP, Ryan AK, O’Connell SM, Rosenfeld MG. P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development. Proc Natl Acad Sci USA 1996; 93(15): 7706-10.

  34. Lamonerie T, Tremblay JJ, Lanctôt C, Therrien M, Gauthier Y, Drouin J. Ptx1, a bicoid-related homeobox transcription factor involved in transcription of the pro-opiomelanocortin gene. Genes Dev 1996; 10(10): 1284-95.

  35. Logan M, Simon HG, Tabin C. Differential regulation of T-box and homeobox transcription factors suggests roles in controlling chick limb-type identity. Development 1998; 125(15): 2825-35.

  36. Logan M, Tabin CJ. Role of PITX1 upstream of Tbx4 in specification of hindlimb identity. Science 1999; 283(5408): 1736-9.

  37. Mitsiadis TA, Drouin J. Deletion of the PITX1 genomic locus affects mandibular tooth morphogenesis and expression of the Barx1 and Tbx1 genes. Dev Biol 2008; 313(2): 887-96.

  38. Philippi A, Torres F, Carayol J, Rousseau F, Letexier M, Roschmann E, Lindenbaum P, Benajjou A, Fontaine K, Vazart C, Gesnouin P, Brooks P, Hager J. Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis. BMC Med Genet 2007; 8: 74.

  39. Yi CH, Russ A, Brook JD. Virtual cloning and physical mapping of a human T-box gene, TBX4. Genomics 2000; 67(1): 92-5.

  40. Bongers EM, Van Bokhoven H, Van Thienen MN, Kooyman MA, Van Beersum SE, Boetes C, Knoers NV, Hamel BC. The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. J Med Genet 2001; 38(3): 209-14.

  41. Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet 2004; 74(6): 1239-48.

  42. Heck AL, Bray MS, Scott A, Blanton SH, Hecht JT. Variation in CASP10 gene is associated with idiopathic talipes equinovarus. J Pediatr Orthop 2005; 25(5): 598-602.

  43. Wang LL, Fu WN, Li-Ling J, Li ZG, Li LY, Sun KL. HOXD13 may play a role in idiopathic congenital clubfoot by regulating the expression of FHL1. Cytogenet Genome Res 2008; 121(3-4): 189-95.

  44. Wang LL, Fu WN, Li-Ling J, Li ZG, Li LY, Sun KL. HOXD13 may play a role in idiopathic congenital clubfoot by regulating the expression of FHL1. Cytogenet Genome Res 2008; 121(3-4): 189-95.

  45. Szeto DP, Rodriguez-Esteban C, Ryan AK, O’Connell SM, Liu F, Kioussi C, Gleiberman AS, Izpisúa-Belmonte JC, Rosenfeld MG. Role of the Bicoid-related homeodomain factor PITX1 in specifying hindlimb morphogenesis and pituitary development. Genes Dev 1999; 13(4): 484-94.

  46. Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB. Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. Am J Hum Genet 2008 Nov; 83(5): 616-22.

  47. Dobbs M, Alvarado, D, Buchan, J, Gurnett C. Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. POSNA 2011 Annual Meeting Montreal, Canada, 2011.




2020     |     www.medigraphic.com