English

Abstract

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.