Journal of Pediatric Urology
Volume 2, Issue 4 , Pages 233-242 , August 2006

Deletion mapping of critical region for hypospadias, penoscrotal transposition and imperforate anus on human chromosome 13

  • Nilda M. Garcia

      Affiliations

    • Department of Surgery, University of Texas Southwestern Medical Center, Dallas, TX, USA
  • ,
  • Jocelyn Allgood

      Affiliations

    • Departments of Urology, University of Texas Southwestern Medical Center, 5325 Harry Hines Boulevard, U9110, Dallas, TX 75390-9110, USA
  • ,
  • Lane J. Santos

      Affiliations

    • McDermott Center for Human Growth & Development, University of Texas Southwestern Medical Center, Dallas, TX, USA
  • ,
  • Devin Lonergan

      Affiliations

    • Departments of Urology, University of Texas Southwestern Medical Center, 5325 Harry Hines Boulevard, U9110, Dallas, TX 75390-9110, USA
  • ,
  • J.R. Batanian

      Affiliations

    • Department of Pediatrics, Pediatrics Research Institute, University of Saint-Louis, MO, USA
  • ,
  • Christopher Dravis

      Affiliations

    • Center for Developmental Biology, University of Texas Southwestern Medical Center, Dallas, TX, USA
  • ,
  • Mark Henkemeyer

      Affiliations

    • Center for Developmental Biology, University of Texas Southwestern Medical Center, Dallas, TX, USA
  • ,
  • Oliver Bartsch

      Affiliations

    • Institut für Klinische Genetik, Universitätsklinikum, Technische Universität, University Hospital Carl Gustav Carus, Dresden, Germany
  • ,
  • Roger A. Schultz

      Affiliations

    • Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
  • ,
  • Andrew R. Zinn

      Affiliations

    • McDermott Center for Human Growth & Development, University of Texas Southwestern Medical Center, Dallas, TX, USA
  • ,
  • Linda A. Baker

      Affiliations

    • Departments of Urology, University of Texas Southwestern Medical Center, 5325 Harry Hines Boulevard, U9110, Dallas, TX 75390-9110, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1 214 648 2278; fax: +1 214 648 8786.

Received 18 October 2005 ,Accepted 7 March 2006.

References 

  1. Allderdice PW, Davis JG, Miller OJ, Klinger HP, Warburton D, Miller DA, et al. The 13q-deletion syndrome. Nature. 1969;499:
  2. Bartsch O, Kuhnle U, Wu LL, Schwinger E, Hinkel GK. Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34. Am J Med Genet. 1996;65:218
  3. Kuhnle U, Bartsch O, Werner W, Schuster T. Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome. Pediatr Surg Int. 2000;16:396
  4. Luo J, Balkin N, Stewart JF, Sarwark JF, Charrow J, Nye JS. Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33–34. Am J Med Genet. 2000;91:227
  5. Brown S, Russo J, Chitayat D, Warburton D. The 13q syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet. 1995;57:859
  6. Gutierrez J, Sepulveda W, Saez R, Carstens E, Sanchez J. Prenatal diagnosis of 13q-syndrome in a fetus with holoprosencephaly and thumb agenesis. Ultrasound Obstet Gynecol. 2001;17:166
  7. Brown S, Gersen S, Anyane-Yeboa K, Warburton D. Preliminary definition of a “critical region” of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet. 1993;45:52
  8. Bamforth JS, Lin CC. DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del (13q). Am J Med Genet. 1997;73:408
  9. Iafolla AK, McConkie-Rosell A, Chen YT. VATER and hydrocephalus: distinct syndrome?. Am J Med Genet. 1991;38:46
  10. Paulozzi LJ. International trends in rates of hypospadias and cryptorchidism. Environ Health Perspect. 1999;107:297
  11. Sharpe RM. The ‘oestrogen hypothesis’– where do we stand now?. Int J Androl. 2003;26:2
  12. In:  Myers J editors. Endocrine disruption: emerging science vitally important for pediatric urologists. Pearl River, NY: William J. Miller Assoc., Inc.; 2000;p. 2–3
  13. Fisher JS. Environmental anti-androgens and male reproductive health: focus on phthalates and testicular dysgenesis syndrome. Reproduction. 2004;127:305
  14. Paulozzi LJ, Erickson JD, Jackson RJ. Hypospadias trends in two US surveillance systems. Pediatrics. 1997;100:831
  15. Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986;323:643
  16. Brown SA, Warburton D, Brown LY, Yu C-Y, Roeder ER, Stengel-Rutkowski S, et al. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet. 1998;20:180
  17. Walsh LE, Vance GH, Weaver DD. Distal 13q deletion syndrome and the VACTERL association: case report, literature review, and possible implications. Am J Med Genet. 2001;98:137
  18. Vittu PG, Croquette MF, Donney A, Duminy FR, Couturier J, Cousin J. Syndrome polymalformatif lethal avec deletion 13q secondaire a une translocation maternelle X 13. [Lethal multiple malformation syndrome with deletion of 13q secondary to a maternal X:13 translocation] J Genet Hum. 1989;37:141;[in French]
  19. Brock W, Pena A. Urological implications of imperforate anus. AUA Update Series. 1991;202
  20. Metts JC, Kotkin L, Kasper S, Shyr Y, Adams MC, Brock JW. Genital malformations and coexistent urinary tract or spinal anomalies in patients with imperforate anus. J Urol. 1997;158:1298
  21. Lerone M, Bolino A, Martucciello G. The genetics of anorectal malformations: a complex matter. Semin Pediatr Surg. 1997;6:170
  22. Chung JL, Choi JR, Park MS, Choi SH. A case of del(13) (q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition. Yonsei Med J. 2001;42:558
  23. Boduroglu K, Alikasifoglu M, Tuncbilek E, Uludogan S. Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition. Clin Dysmorphol. 1998;7:299
  24. Gershoni-Baruch R, Zekaria D. Deletion (13) (q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition. Clin Dysmorphol. 1996;5:289
  25. Fryns JP, Peeters R, Petit P, Van den Berghe H. New chromosomal syndromes. Acta Paediatr Belg. 1980;33:261
  26. Parida SK, Hall BD, Barton L, Fujimoto A. Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature. Am J Med Genet. 1995;59:68
  27. Christensen K, Madsen CM, Hauge M, Kock K. An epidemiological study of congenital anorectal malformations: 15 Danish birth cohorts followed for 7 years. Paediatr Perinat Epidemiol. 1990;4:269
  28. Kiesewetter WB, Chang JH. Imperforate anus: a five to thirty year follow-up perspective. Prog Pediatr Surg. 1977;10:111
  29. Spouge D, Baird PA. Imperforate anus in 700,000 consecutive liveborn infants. Am J Med Genet Suppl. 1986;2:151
  30. Smith E. Incidence, frequency of types and etiology of anorectal malformations. In:  Stephens F,  Smith E editor. Anorectal malformations in children. New York, NY: Liss; 1988;p. 231–247
  31. Perriton CL, Powles N, Chiang C, Maconochie MK, Cohn MJ. Sonic hedgehog signaling from the urethral epithelium controls external genital development. Dev Biol. 2002;247:26
  32. Haraguchi R, Mo R, Hui C, Motoyama J, Makino S, Shiroishi T, et al. Unique functions of Sonic hedgehog signaling during external genitalia development. Development. 2001;128:4241
  33. Haraguchi R, Suzuki K, Murakami R, Sakai M, Kamikawa M, Kengaku M, et al. Molecular analysis of external genitalia formation: the role of fibroblast growth factor (Fgf) genes during genital tubercle formation. Development. 2000;127:2471
  34. Morgan EA, Nguyen SB, Scott V, Stadler HS. Loss of Bmp7 and Fgf8 signaling in Hoxa13-mutant mice causes hypospadia. Development. 2003;130:3095
  35. de Santa Barbara P, Roberts DJ. Tail gut endoderm and gut/genitourinary/tail development: a new tissue-specific role for Hoxa13. Development. 2002;129:551
  36. Post LC, Innis JW. Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures. Biol Reprod. 1402;61:1999
  37. Warot X, Fromental-Ramain C, Fraulob V, Chambon P, Dolle P. Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts. Development. 1997;124:4781
  38. Ogino Y, Suzuki K, Haraguchi R, Satoh Y, Dolle P, Yamada G. External genitalia formation: role of fibroblast growth factor, retinoic acid signaling, and distal urethral epithelium. Ann N Y Acad Sci. 2001;948:13
  39. Suzuki K, Ogino Y, Murakami R, Satoh Y, Bachiller D, Yamada G. Embryonic development of mouse external genitalia: insights into a unique mode of organogenesis. Evol Dev. 2002;4:133
  40. Kim J, Kim P, Hui CC. The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet. 2001;59:306
  41. Mo R, Kim JH, Zhang J, Chiang C, Hui CC, Kim PC. Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol. 2001;159:765
  42. Ramalho-Santos M, Melton DA, McMahon AP. Hedgehog signals regulate multiple aspects of gastrointestinal development. Development. 2000;127:2763
  43. Arsic D, Qi BQ, Beasley SW. Hedgehog in the human: a possible explanation for the VATER association. J Paediatr Child Health. 2002;38:117
  44. Bose J, Grotewold L, Ruther U. Pallister–Hall syndrome phenotype in mice mutant for Gli3. Hum Mol Genet. 2002;11:1129
  45. Kimmel SG, Mo R, Hui CC, Kim PC. New mouse models of congenital anorectal malformations. J Pediatr Surg. 2000;35:227
  46. Dravis C, Yokoyama N, Chumley MJ, Cowan CA, Silvany RE, Shay J. Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development. Dev Biol. 2004;271:272
  47. Wang HU, Chen ZF, Anderson DJ. Molecular distinction and angiogenic interaction between embryonic arteries and veins revealed by ephrin-B2 and its receptor Eph-B4. Cell. 1998;93:741
  48. Russell L. Chromosome 13, monosomy 13q. In:  Buyse M,  Dover MA editor. Birth defects encyclopedia. Center for Birth Defects Information Services, Inc.; 1989;p. 366–367

PII: S1477-5131(06)00059-3

doi: 10.1016/j.jpurol.2006.03.006

Journal of Pediatric Urology
Volume 2, Issue 4 , Pages 233-242 , August 2006