IPPTS, Université de Strasbourg, 67000 Strasbourg, France.
Laboratoire de Diagnostic Génétique UF de génétique de l'infertilité, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Genes (Basel). 2021 Mar 12;12(3):410. doi: 10.3390/genes12030410.
Infertility is a global healthcare problem, which affects men and women equally. With the advance of genome-wide analysis, an increasing list of human genes involved in infertility is now available. In order to evaluate the diagnostic interest to analyze these genes, we have designed a gene panel allowing the analysis of 51 genes involved in non-syndromic human infertility. In this initial evaluation study, a cohort of 94 non-syndromic infertility cases with a well-defined infertility phenotype was examined. Five patients with previously known mutations were used as positive controls. With a mean coverage of 457×, and 99.8% of target bases successfully sequenced with a depth coverage over 30×, we prove the robustness and the quality of our panel. In total, we identified pathogenic or likely pathogenic variations in eight patients (five male and three female). With a diagnostic yield of 8.5% and the identification of a variety of variants including substitution, insertion, deletion, and copy number variations, our results demonstrate the usefulness of such a strategy, as well as the efficiency and the quality of this diagnostic gene panel.
不孕不育是一个全球性的医疗保健问题，它同样影响着男性和女性。随着全基因组分析的进展，越来越多的与不孕不育相关的人类基因被发现。为了评估分析这些基因的诊断意义，我们设计了一个基因panel，能够分析 51 个与非综合征性人类不孕不育相关的基因。在这项初步的评估研究中，我们检查了 94 例具有明确不孕不育表型的非综合征性不孕不育病例。5 名先前已知存在突变的患者作为阳性对照。平均覆盖度为 457×，99.8%的目标碱基成功测序，深度覆盖度超过 30×，这证明了我们的 panel 的稳健性和质量。总共在 8 名患者（5 名男性和 3 名女性）中发现了致病性或可能致病性的变异。诊断率为 8.5%，并鉴定出多种变异，包括替换、插入、缺失和拷贝数变异，我们的结果表明了这种策略的有效性，以及该诊断基因 panel 的效率和质量。
