Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

L. Yin, V. Barone, M. Seri, A. Bolino, R. Bocciardi, I. Ceccherini, B. Pasini, T. Tocco, M. Lerone, S. Cywes, S. Moore, J. M. Vanderwinden, M. J. Abramowica, U. Kristoffersson, L. T. Larsson, B. C J Hamel, M. Silengo, G. Martucciello, G. Romeo

Research output: Contribution to journalArticlepeer-review


Mutations in some exons of the RET proto-oncogene were recently observed in Hirschsprung patients. Using DNA poly morphisms and single-strand conformation polymorphism analysis for the whole coding sequence of the RET proto-oncogene, 82 unrelated Hirschsprung patients were screened systematically. A total of 4 complete deletions of RET and 12 point mutations were identified, each present in no more than one patient and distributed along the whole gene. De novo mutations could be documented in 4 patients. Southern blot and fluorescence in situ hybridization analysis carried out in a restricted number of patients did not reveal any deletion or RET. The low efficiency in detecting mutations of RET in Hirschsprung patients (20%) may originate mainly from genetic heterogeneity.

Original languageEnglish
Pages (from-to)272-280
Number of pages9
JournalEuropean Journal of Human Genetics
Issue number4
Publication statusPublished - 1994


  • Heterogeneity
  • Hirschsprung disease
  • Mutations in RET

ASJC Scopus subject areas

  • Genetics(clinical)


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