biostudies-literatureUnknown32(6)Pereira R<h4>Purpose</h4>Perform the genetic characterization of five patients with total sperm immotility using Sanger sequencing and Whole Exome Sequencing (WES), in order to increase the knowledge on the genetics of sperm immotility and, ultimately, allow the identification of potential genetic markers for infertility.<h4>Methods</h4>Prospective study at a University Medical school. We analysed five men with total sperm immotility, four with dysplasia of the fibrous sheath (DFS), associated with disruption of several axonemal structures, and one patient with situs inversus totalis, which showed absence of dynein arms (DA) and nexin bridges. We screened 7 genes by Sanger sequencing, involved in sperm motility and associated to ultrastructural defects found in these patients (CCDC39, CCDC40, DNAH5Journal of assisted reproduction and genetics893-902https://www.ebi.ac.uk/biostudies/studies/S-EPMC4491072biostudies-literatureMutation analysis in patients with total sperm immotility.PMC4491072Ferraz LSousa MSantos RPereira RBarros AOliveira JfalseMutation analysis in patients with total sperm immotility.<h4>Purpose</h4>Perform the genetic characterization of five patients with total sperm immotility using Sanger sequencing and Whole Exome Sequencing (WES), in order to increase the knowledge on the genetics of sperm immotility and, ultimately, allow the identification of potential genetic markers for infertility.<h4>Methods</h4>Prospective study at a University Medical school. We analysed five men with total sperm immotility, four with dysplasia of the fibrous sheath (DFS), associated with disruption of several axonemal structures, and one patient with situs inversus totalis, which showed absence of dynein arms (DA) and nexin bridges. We screened 7 genes by Sanger sequencing, involved in sperm motility and associated to ultrastructural defects found in these patients (CCDC39, CCDC40, DNAH52015-01-01T00:00:00Z2015 Jun2026-05-30T05:41:20.04Z2026-04-08T06:36:54.154ZS-EPMC44910722587737310.1007/s10815-015-0474-6