Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease
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 develo...
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Published in | Journal of pediatric surgery Vol. 41; no. 7; pp. 1250 - 1254 |
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Main Authors | , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Elsevier Inc
01.07.2006
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Subjects | |
Online Access | Get full text |
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Summary: | 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.
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.
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.
This study identified additional mutations of
RET gene, which represents the first comprehensive genetic dissection of sporadic HSCR disease in Koreans. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0022-3468 1531-5037 |
DOI: | 10.1016/j.jpedsurg.2006.03.051 |