Do RET and APC Crosstalk in Hirschsprungs Disease Pathogenesis?
Although a number of genes have been shown to be involved in the pathogenesis of Hirschsprung's disease (HSCR), the RET proto-oncogene and the Endothelin receptor B (EDNRB) genes remain the major susceptibility genes. The final phenotypic expression appears to depend on gene-gene interaction bu...
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| Published in | Trends in medical research Vol. 3; no. 1; pp. 31 - 35 |
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| Main Author | |
| Format | Journal Article |
| Language | English |
| Published |
01.01.2008
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| Online Access | Get full text |
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| Summary: | Although a number of genes have been shown to be involved in the pathogenesis of Hirschsprung's disease (HSCR), the RET proto-oncogene and the Endothelin receptor B (EDNRB) genes remain the major susceptibility genes. The final phenotypic expression appears to depend on gene-gene interaction but crosstalk with the APC/Wnt system has not previously been described. We report a case of short segment HSCR where mutational analysis showed both RET (V202M) and adenomatous polyposis coli (APC) (E1317Q) mutations. Several additional RET (A45, L769) and EDNRB (831G/A) polymorphisms but no EDN3 sequence variants were identified. We report the first association of the APC gene as a possible modifier locus with HSCR and explore possible mechanisms of action. |
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| Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 |
| ISSN: | 1819-3587 |
| DOI: | 10.3923/tmr.2008.31.35 |