Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias
- PMID: 14675924
- DOI: 10.1080/00365590310014517
Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias
Abstract
Objective: Different molecular factors have been identified as being associated with isolated or syndrome-associated forms of hypospadias. Nevertheless, the etiology of hypospadias is unknown in 70% of cases. As mutations in the homeobox gene A13 (HOXA13) were all found to be associated with hypospadias in affected males, some types of mutation may solely lead to the isolated form. Moreover, mutations in the Wilms' tumor suppressor gene WT1 have been found in patients with hypospadias without evidence of a Wilms' tumor and, therefore, its recently identified associated protein (WTAP) may be a further candidate gene for the genesis of hypospadias.
Material and methods: A total of 37 patients affected with different forms of isolated hypospadias were analyzed for mutations in their HOXA13 and WTAP genes.
Results: With the exception of two novel WTAP polymorphisms, no mutations could be observed.
Conclusions: There seems to be no evidence that isolated hypospadias is commonly caused by mutations in HOXA13 or WTAP genes.
Similar articles
-
Wilms' tumor 1-associating protein regulates the proliferation of vascular smooth muscle cells.Circ Res. 2006 Dec 8;99(12):1338-46. doi: 10.1161/01.RES.0000252289.79841.d3. Epub 2006 Nov 9. Circ Res. 2006. PMID: 17095724
-
Vascular biology and the sex of flies: regulation of vascular smooth muscle cell proliferation by wilms' tumor 1-associating protein.Trends Cardiovasc Med. 2007 Oct;17(7):230-4. doi: 10.1016/j.tcm.2007.08.002. Trends Cardiovasc Med. 2007. PMID: 17936204 Review.
-
Candidate genes and their response to environmental agents in the etiology of hypospadias.Nat Clin Pract Urol. 2007 May;4(5):270-9. doi: 10.1038/ncpuro0783. Nat Clin Pract Urol. 2007. PMID: 17483812 Review.
-
Mutation analysis of five candidate genes in Chinese patients with hypospadias.Eur J Hum Genet. 2004 Sep;12(9):706-12. doi: 10.1038/sj.ejhg.5201232. Eur J Hum Genet. 2004. PMID: 15266301
-
Polymorphisms of MAMLD1 gene in hypospadias.J Pediatr Urol. 2011 Dec;7(6):585-91. doi: 10.1016/j.jpurol.2011.09.005. Epub 2011 Oct 24. J Pediatr Urol. 2011. PMID: 22030455
Cited by
-
RNA epigenetics.Transl Res. 2015 Jan;165(1):28-35. doi: 10.1016/j.trsl.2014.04.003. Epub 2014 Apr 8. Transl Res. 2015. PMID: 24768686 Free PMC article. Review.
-
Post-transcriptional gene regulation by mRNA modifications.Nat Rev Mol Cell Biol. 2017 Jan;18(1):31-42. doi: 10.1038/nrm.2016.132. Epub 2016 Nov 3. Nat Rev Mol Cell Biol. 2017. PMID: 27808276 Free PMC article. Review.
-
A Genetics Study in the Foreskin of Boys with Hypospadias.Mol Syndromol. 2023 Jun;14(3):185-190. doi: 10.1159/000527405. Epub 2023 Jan 16. Mol Syndromol. 2023. PMID: 37323199 Free PMC article.
-
Hypospadias and genes related to genital tubercle and early urethral development.J Urol. 2013 Nov;190(5):1884-92. doi: 10.1016/j.juro.2013.05.061. Epub 2013 May 30. J Urol. 2013. PMID: 23727413 Free PMC article.
-
Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence.Birth Defects Res A Clin Mol Teratol. 2012 Jul;94(7):499-510. doi: 10.1002/bdra.23021. Epub 2012 Jun 8. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22678668 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases
Research Materials