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Abstract：
Infertility is a common health problem that affects around 1 in 6 couples in the United States, where half of these cases are attributed to male factors. Genetics play an important role in infertility and it is estimated that up to 50% of cases are due to genetic factors. Despite this, many male infertility cases are still idiopathic. This study aimed to identify the presence of possibly pathogenic rare variants in a set of candidate genes related to azoospermia in 69 Jordanian men using a next-generation sequencing-based panel covering more than a hundred male infertility related genes. A total of 9 variants were found and validated. Among them, two variants included reported pathogenic variants in CFTR and one novel pathogenic variant in the USP9Y gene. We also report the detection of 6 other variants with uncertain significance in other genes. Interestingly, male cases with CFTR variants did not show the expected cystic fibrosis phenotypes except for infertility. This work helps to uncover the contribution of additional genetic factors to the aetiology of male infertility and highlights the importance to obtain more reliable information about the presence of genetic variation in the Jordanian population.
摘要：
不孕症是一种常见的健康问题，在美国影响大约六分之一的夫妇。这些病例中有一半归因于男性因素。遗传学在不孕症中起着重要作用，据估计，多达50％的病例是由于遗传因素。尽管如此,许多男性不育病例仍然是特发性的。这项研究旨在使用涵盖一百多个男性不育相关基因的基于下一代测序的小组，在69名约旦男性中与无精子症相关的一组候选基因中确定可能的致病性罕见变异的存在。发现并验证了总共9种变体。其中,两个变异体包括CFTR中报道的致病性变异体和USP9Y基因中的一个新的致病性变异体.我们还报告了在其他基因中检测到6种具有不确定意义的其他变体。有趣的是,有CFTR变异的男性病例除不孕症外,未显示预期的囊性纤维化表型.这项工作有助于揭示其他遗传因素对男性不育病因的贡献，并强调了获得有关约旦人口中遗传变异存在的更可靠信息的重要性。
