Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease |
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Authors: | Kim Jeong-Hyun Yoon Kyong-Oh Kim Jeong-Kook Kim Jong-Won Lee Suk-Koo Kong Sun-Young Seo Jeong-Meen |
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Institution: | a Division of Pediatric Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, South Korea b School of Life Sciences and Biotechnology, Korea University, Seoul 136-701, South Korea c Macrogen Inc, Seoul 153-781, South Korea d Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, South Korea e Center for Clinical Services, National Cancer Center, Ilsan 410-769, South Korea |
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Abstract: | Background/PurposeHirschsprung'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.MethodsAll 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.ResultsA 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.ConclusionsThis study identified additional mutations of RET gene, which represents the first comprehensive genetic dissection of sporadic HSCR disease in Koreans. |
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Keywords: | Hirschsprung's disease (HSCR) RET gene Mutation Haplotype |
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