(331) Whole Exome Sequencing Identifies Rare CFTR Variant in Two Brothers with CBAVD and CUAVD

Abstract Introduction Congenital Bilateral Absence of the Vas Deferens (CBAVD) is a condition leading to obstructive azoospermia and male infertility. CBAVD associated with mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene. Unilateral (CUAVD), where only one vas deferens missing, also CFTR However, genetic causes both conditions are not fully understood warrant further investigation. We present two brothers, CUAVD, who were subjected whole exome sequencing. Objective To assess similarities using sequencing between brothers differing reproductive capacities. Methods Whole was performed brothers. Subject A 39-year-old-male had previously fathered child diagnosed CUAVD during his vasectomy. B 37-year-old CBAVD, testing significant for copy mutated gene (unaffected CF carrier). blood collected. DNA extracted quality assessed. Finally, completed. Results results annotation filtering. Both subjects noted share rare mutation (p.R347H). most common cause have been linked CUAVD. this unique case same but different phenotypic expressions mutation. Conclusions identified variant (p.R347H) evidence that absence (unilateral or bilateral) may be mutations, even fibrosis. Understanding spectrum pivotal treating Disclosure Any authors act as consultant, employee shareholder an industry for: Acerus Pharmaceuticals, Boston Scientific, Coloplast, Endo Empower Pharmacy, Nestle Health, Olympus, Hims Inc.