Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease

Jeong Hyun Kim, Kyong Oh Yoon, Jeong Kook Kim, Jong Won Kim, Suk Koo Lee, Sun Young Kong, Jeong Meen Seo

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


Background/Purpose: Hirschsprung's disease (HSCR) is a congenital abnormality that can cause an intestinal obstruction. Although HSCR demonstrates a sex-modified polygenic inheritance with contributions from multiple genes, mutations in the RET gene are believed to be the major sign of susceptibility in the development of disease. The allele frequency of polymorphisms was mostly tested in the American and European population, but the data of an ethnically diverse nonwhite population are unclear. Methods: All 21 exons and intron/exon boundaries of the RET gene in 18 Korean patients with sporadic HSCR and 84 normal individuals were screened using polymerase chain reaction amplification and direct sequencing. Results: A total of 11 different nucleotide substitutions were identified. Of these, 2 were new missense mutations (C558Y, cysteine-rich domain; R844W, tyrosine kinase domain) and 9 previously described variants. This study also analyzed the haplotypes for the association between the variants identified with HSCR, but the estimated RET haplotypes did not show any disease risk. Conclusions: This study identified additional mutations of RET gene, which represents the first comprehensive genetic dissection of sporadic HSCR disease in Koreans.

Original languageEnglish
Pages (from-to)1250-1254
Number of pages5
JournalJournal of Pediatric Surgery
Issue number7
Publication statusPublished - 2006 Jul


  • Haplotype
  • Hirschsprung's disease (HSCR)
  • Mutation
  • RET gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery


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