RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family

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art_TOLEDO_RET_haplotype_not_linked_to_the_C620R_activating_mutation_2012.PDF (1.17 MB)
Citações na Scopus
2
Tipo de produção
article
Data de publicação
2012
DOI
SciELO
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
HOSPITAL CLINICAS, UNIV SAO PAULO
Autores
Citação
CLINICS, v.67, suppl.1, p.57-61, 2012
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mutations in RET have been reported in up to 50% of the inherited forms of Hirschsprung disease and in 15-20% of sporadic cases of Hirschsprung disease. The prevalence of Hirschsprung disease in multiple endocrine neoplasia type 2 cases was recently determined to be 7.5% and the co-occurrence of Hirschsprung disease and multiple endocrine neoplasia type 2 has been reported in at least 22 families so far. It was initially thought that Hirschsprung disease could be due to disturbances in apoptosis or due to a tendency of the mutated RET receptor to be retained in the Golgi apparatus. Presently, there is strong evidence favoring the hypothesis that specific inactivating haplotypes play a key role in the fetal development of congenital megacolon/Hirschsprung disease. In the present study, we report the genetic findings in a novel family with multiple endocrine neoplasia type 2: a specific RET haplotype was documented in patients with Hirschsprung disease associated with medullary thyroid carcinoma, but it was absent in patients with only medullary thyroid carcinoma. Despite the limited number of cases, the present data favor the hypothesis that specific haplotypes not linked to RET germline mutations are the genetic causes of Hirschsprung disease.
Palavras-chave
RET, MEN2, HSCR, Hirschsprung, Haplotypes
URI
https://observatorio.fm.usp.br/handle/OPI/450
Referências
  1. Amiel J, 2008, J MED GENET, V45, P1, DOI 10.1136/jmg.2007.053959
  2. Amiel J, 2001, J MED GENET, V38, P729, DOI 10.1136/jmg.38.11.729
  3. Bordeaux MC, 2000, EMBO J, V19, P4056, DOI 10.1093/emboj/19.15.4056
  4. Borrego S, 1998, J CLIN ENDOCR METAB, V83, P3361, DOI 10.1210/jc.83.9.3361
  5. Borrego S, 2003, AM J HUM GENET, V72, P88, DOI 10.1086/345466
  6. BORST MJ, 1995, SURGERY, V117, P386, DOI 10.1016/S0039-6060(05)80057-1
  7. Carlomagno F, 1996, EMBO J, V15, P2717
  8. Carniti C, 2006, AM J PATHOL, V168, P1262, DOI 10.2353/ajpath.2006.050607
  9. Caron P, 1996, J CLIN ENDOCR METAB, V81, P2731, DOI 10.1210/jc.81.7.2731
  10. Carrasquillo MM, 2002, AM J HUM GENET, V71, P193
  11. Coelho MCM, 2008, PEDIATR SURG INT, V24, P1017, DOI 10.1007/s00383-008-2207-8
  12. Cohen MS, 2002, ANN SURG, V235, P648, DOI 10.1097/00000658-200205000-00006
  13. Correia-Deur JEM, 2009, CLINICS, V64, P379, DOI 10.1590/S1807-59322009000500002
  14. Decker RA, 1998, HUM MOL GENET, V7, P129, DOI 10.1093/hmg/7.1.129
  15. Eng C, 1996, JAMA-J AM MED ASSOC, V276, P1575, DOI 10.1001/jama.276.19.1575
  16. Fernandez RM, 2003, HUM MUTAT, V22, P412, DOI 10.1002/humu.10273
  17. Frank-Raue K, 2011, HUM MUTAT, V32, P51, DOI 10.1002/humu.21385
  18. Iwashita T, 1996, HUM MOL GENET, V5, P1578
  19. Machens A, 2009, J INTERN MED, V266, P114, DOI 10.1111/j.1365-2796.2009.02113.x
  20. Machens A, 2012, CLINICS, V67, P113, DOI 10.6061/clinics/2012(Sup01)19
  21. Moore SW, 2012, CLINICS, V67, P63, DOI 10.6061/clinics/2012(Sup01)12
  22. MULLIGAN LM, 1994, HUM MOL GENET, V3, P2163, DOI 10.1093/hmg/3.12.2163
  23. Nishikawa M, 2003, EUR J HUM GENET, V11, P364, DOI 10.1038/sj.ejhg.5200971
  24. PASINI B, 1995, NAT GENET, V10, P35, DOI 10.1038/ng0595-35
  25. Pelet A, 1998, J CLIN INVEST, V101, P1415, DOI 10.1172/JCI375
  26. Peretz H, 1997, HUM MUTAT, V10, P155, DOI 10.1002/(SICI)1098-1004(1997)10:2<155::AID-HUMU7>3.0.CO;2-J
  27. Romeo G, 1998, J INTERN MED, V243, P515
  28. Ruiz-Ferrer M, 2011, J MOL MED, V89, P471, DOI 10.1007/s00109-010-0714-2
  29. Santos MM, 2008, PEDIATR SURG INT, V24, P715, DOI 10.1007/s00383-008-2141-9
  30. Tannuri ACA, 2009, J PEDIATR SURG, V44, P767, DOI 10.1016/j.jpedsurg.2008.08.002
  31. Tannuri U, 2007, REV ASSOC MED BRAS, V53, P100
  32. Toledo RA, 2010, J CLIN ENDOCR METAB, V95, P1318, DOI 10.1210/jc.2009-1355
  33. Toledo Sergio Pereira de Almeida, 2006, Clinics (Sao Paulo), V61, P59
  34. Toledo SPA, 2009, CLINICS, V64, P699, DOI 10.1590/S1807-59322009000700015
  35. VERDY M, 1982, J PEDIATR GASTR NUTR, V1, P603, DOI 10.1097/00005176-198212000-00027

Coleções
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/25
Artigos e Materiais de Revistas Científicas - LIM/30