Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing.

ABSTRACT: Introduction: Hypospadias [MIM: 300633] is one of the most frequent congenital malformations of male external genitalia. The spectrum of genetic variants causing hypospadias is varied, with studies commonly implicating genes critical in the fetal steroidogenic pathway. This is the first genetic study on hypospadias from the Yemen ethnicity and the second to report HSD3B2 mutations in more than one affected individual from the same family. Material and methods: Surgical hypospadias repair was performed on two hypospadias-affected siblings from a consanguineous family. Whole-exome sequencing (WES) was performed to identify the potential pathogenic variant for hypospadias, which was later confirmed by Sanger sequencing. The identified variant was further analyzed for its

SUBMITTER: Almaramhy HH 

PROVIDER: S-EPMC10297146 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature