Journal of Medical Genetics and Genomics
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Article Number - A4532C651932


Vol.7(1), pp. 1-6 , March 2015
DOI: 10.5897/JMGG2015.0078
ISSN: 2141-2278



Full Length Research Paper

Evaluation of BNC2 as a new candidate gene for hypospadias



Anna Skarin Nordenvall
  • Anna Skarin Nordenvall
  • Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden. 2Department of Pediatric Surgery, Astrid Lindgren Children's Hospital, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
  • Google Scholar
Jia Cao
  • Jia Cao
  • Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
  • Google Scholar
Ellen Markljung
  • Ellen Markljung
  • Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
  • Google Scholar
Izabella Baranowska Körberg
  • Izabella Baranowska Körberg
  • Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
  • Google Scholar
Agneta Nordenskjöld*
  • Agneta Nordenskjöld*
  • Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, SE-171 76 Stockholm, Sweden. 2Department of Pediatric Surgery, Astrid Lindgren Children's Hospital, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
  • Google Scholar







 Received: 12 February 2015  Accepted: 26 March 2015  Published: 31 March 2015

Copyright © 2015 Author(s) retain the copyright of this article.
This article is published under the terms of the Creative Commons Attribution License 4.0


In order to evaluate the use of the BNC2 gene in clinical practice regarding hypospadias, the presence of the impact of mutations in BNC2 gene in males who had been treated surgically for hypospadias in Sweden (N=413) and controls (N=455) were evaluated. Mutational screening was performed using Sanger sequencing and genotyping by Taqman allelic discrimination, and the findings were evaluated by disease-causing potential using Mutation Taster and PolyPhen. Nine missense mutations were identified, six of which were more common among cases than among controls, one being previously unknown. Six of these genetic variants were predicted to be possibly or probably damaging in mutational predictions and are thus potentially disease-causing. No difference was confirmed in the contribution of these findings in different severity of phenotype. Due to the complexity of the gene structure, the impact of variants was difficult to evaluate, and thus the clinical use of BNC2 in the management of 46,XY disorder of sex development (DSD) remains limited.

 

Key words: BNC2 gene, hypospadias, mutations, polymorphism.

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APA Nordenvall, A. S., Cao, J., Markljung, E., Körberg, I. B., & Nordenskjöld*, A. (2015). Evaluation of BNC2 as a new candidate gene for hypospadias. Journal of Medical Genetics and Genomics, 7(1), 1-6.
Chicago Anna Skarin Nordenvall, Jia Cao, Ellen Markljung, Izabella Baranowska Körberg and Agneta Nordenskjöld,. "Evaluation of BNC2 as a new candidate gene for hypospadias." Journal of Medical Genetics and Genomics 7, no. 1 (2015): 1-6.
MLA Anna Skarin Nordenvall, et al. "Evaluation of BNC2 as a new candidate gene for hypospadias." Journal of Medical Genetics and Genomics 7.1 (2015): 1-6.
   
DOI 10.5897/JMGG2015.0078
URL http://academicjournals.org/journal/JMGG/article-abstract/A4532C651932

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