Analysis of copy number variation in men with non‐obstructive azoospermia

摘要: Background Recent findings demonstrate that single nucleotide variants can cause non‐obstructive azoospermia (NOA). In contrast, copy number variants (CNVs) were only analysed in few studies in infertile men. Some have reported a higher prevalence of CNVs in infertile versus fertile men. Objectives This study aimed to elucidate if CNVs are associated with NOA. Materials and methods We performed array‐based comparative genomic hybridisation (aCGH) in 37 men with meiotic arrest, 194 men with Sertoli cell‐only phenotype, and 21 control men. We filtered our data for deletions affecting genes and prioritised the affected genes according to the literature search. Prevalence of CNVs was compared between all groups. Exome data of 2,030 men were screened to detect further genetic variants in prioritised genes. Modelling was performed for the protein encoded by the novel candidate gene TEKT5 and we …