Novel and rareCFTRgene mutations in Turkish patients with congenital aplasia of vas deferens

Konjenital Bilateral Vas Deferens Yokluğu Olan Türk Hastalarda Genomik Kopya Sayısı Varyasyonları Analizi

“…We evaluated the clinical findings of CBAVD patients. Despite the ejaculate volume and the fructose levels are usually low in CBAVD men [25]; we detected normal levels of ejaculate volumes and seminal glucosidase and/or fructose concentrations in our study group as we reported before [7]. Lin et al also reported a case with CBAVD having normal semen parameters [26].…”

“…88% of Caucasian, 78% of Non-Caucasian patients with CBAVD carry at least one CFTR mutation [4]. However, CFTR mutations were found to be less common in Turkish CBAVD patients [5][6][7]. We previously reported that only 15.90% had CFTR mutations [7].…”

“…However, CFTR mutations were found to be less common in Turkish CBAVD patients [5][6][7]. We previously reported that only 15.90% had CFTR mutations [7]. The lower frequency of CFTR mutations among Turkish CBAVD cases, as well as differential mutation profiles, demonstrated the impact of geographical and ethnic backgrounds on CBAVD etiology [5,7].…”

“…We previously reported that only 15.90% had CFTR mutations [7]. The lower frequency of CFTR mutations among Turkish CBAVD cases, as well as differential mutation profiles, demonstrated the impact of geographical and ethnic backgrounds on CBAVD etiology [5,7]. Besides CFTR, ADGRG2 (Adhesion G protein-Coupled Receptor G2) gene variants were identified as a cause of CBAVD with a prevalence of 7.4% and 20% in French and Chinese cases, respectively [8,9].…”