Journal of the Chinese Medical Association
Volume 71, Issue 8 , Pages 406-410 , August 2008

Analysis of the RET Gene in Subjects with Sporadic Hirschsprung's Disease

  • Tai-Wai Chin

      Affiliations

    • Division of Pediatric Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Chih-Yang Chiu

      Affiliations

    • Section of Biochemistry, Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medical Technology, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Hsin-Lin Tsai

      Affiliations

    • Division of Pediatric Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Chin-Su Liu

      Affiliations

    • Division of Pediatric Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Chou-Fu Wei

      Affiliations

    • Division of Pediatric Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Tjin-Shing Jap

      Affiliations

    • Section of Biochemistry, Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Division of Metabolism and Endocrinology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medical Technology, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • Corresponding Author InformationCorrespondence to: Dr Tjin-Shing Jap, Section of Biochemistry, Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, 201, Section 2, Shih-Pai Road, Taipei 112, Taiwan, R.O.C.

Received 20 February 2008 ,Accepted 29 July 2008.

References 

  1. Watier A , Feldman P , Martelli H , Arhan P , Devroede G . Hirschsprung's disease . In:  Haubrich WS ,  Schaffner F ,  Berk JE editor. Bockus Gastroenterology . Philadelphia: WB Saunders; 1995;p. 1602–1618
  2. Amiel J , Lyonnet S . Hirschsprung disease, associated syndromes, and genetics: a review . J Med Genet . 2001;38:729–739
  3. Eng C . The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease . New Engl J Med . 1996;335:943–951
  4. Luo Y, Ceccherini I, Pasini B, Materal I, Bicocchi MP, Barone V, et al  Close linkage with the RET proto-oncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease . Hum Mol Genet . 1993;2:1803–1808
  5. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, et al  Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung disease . Nature . 1994;367:377–378
  6. Edery P, Pellet A, Mulligan LM, Abel L, Attie T, Dow E, et al  Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus . J Med Genet . 1994;31:602–606
  7. Attie T, Pellet A, Edery P, Eng C, Mulligan LM, Amiel J, et al  Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease . Hum Mol Genet . 1995;4:1381–1386
  8. Treanor JJS, Goodman L, De Sauvage F, Stone DM, Poulsen KT, Beck CD, et al  Characterization of a multicomponent receptor for GDNF . Nature . 1996;382:80–83
  9. Trupp M, Arenas E, Fainzilber M, Nilsson AS, Sieber BA, Grigoriou M, et al  Functional receptor for GDNF encoded by the c-ret proto-oncogene . Nature . 1996;381:785–789
  10. Heuckeroth RO, Kotzbauer P, Copeland NG, Gilbert DJ, Jenkins NA, Zimonjic DB, et al  A novel neurotrophic factor is localized to mouse chromosome 17 and human chromosome 9p13.3 . Genomics . 1997;44:137–140
  11. Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RMW, et al  Mutation of the endothelin-3 gene in Waardenburg-Hirschsprung's disease . Nat Genet . 1996;12:442–444
  12. Puffenberger EG, Hosoda K, Washington SS, Nakao K, De Wit D, Yanagisawa M, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung disease . Cell . 1994;79:1257–1266
  13. Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, et al  Mutations of the RET proto-oncogene in Hirschsprung's disease . Nature . 1994;367:378–380
  14. Sancandi M, Ceccherini I, Costa M, Fava M, Chen B, Wu Y, et al  Incidence of RET mutations in patients with Hirschsprung disease . J Pediatr Surg . 2000;35:139–143
  15. Garcia-Barcelo MM, Sham MH, Lee WS, Lui VCH, Chen BLS, Wong KKY, et al  Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease . Clin Chem . 2004;59:93–100
  16. Sakai T , Nirasawa Y , Itoh Y , Wakizaka A . Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies . Eur J Pediatr . 2000;159:160–167
  17. Wu TT, Tsai TW, Chu CT, Lee ZF, Hung CM, Su CC, et al  Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan . J Hum Genet . 2005;50:168–174
  18. Liu CS , Chin TW , Wei CF . Neonatal Duhamel's pull-through for Hirschsprung's disease . J Chin Med Assoc . 2002;65:398–402
  19. Mulligan LM, Eng C, Attie T, Lyonnet S, Marsh DJ, Hyland VJ, et al  Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene . Hum Mol Genet . 1994;3:2163–2167
  20. Fitze G, Cramer J, Ziegler A, Schierz M, Schreiber M, Kuhlisch E, et al  Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease . Lancet . 2002;359:1200–1205
  21. Kim JH, Yoon KO, Kim JK, Kim JW, Lee SK, Kong SY, et al. Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease . J Ped Surg . 2006;41:1250–1254
  22. Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, et al  Molecular analysis of congenital central hypoventilation syndrome . Hum Genet . 2003;114:22–26
  23. Pelet A, Geneste O, Edery P, Pasini A, Chappuis S, Atti T, et al  Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease . J Clin Invest . 1998;101:1415–1423
  24. Iwashita T , Murakami H , Asai N , Takahashi M . Mechanism of Ret dysfunction by Hirschsprung mutations affecting its extracellular domain . Hum Mol Genet . 1996;5:1578–1580
  25. Carlomagno F, De Vita G, Berlingieri MT, De Franciscis V, Melillo RM, Colantuoni V, et al  Molecular heterogeneity of RET loss of function in Hirschsprung's disease . EMBO J . 1996;15:2717–2725

PII: S1726-4901(08)70091-1

doi: 10.1016/S1726-4901(08)70091-1

Journal of the Chinese Medical Association
Volume 71, Issue 8 , Pages 406-410 , August 2008

Article Tools