Male infertility is multifactorial and presents with heterogeneous phenotypic features. Genetic factors are responsible for up to 15% of the male infertility cases. Loss of the Cstf2t gene in male mice results in infertility. No disease-associated mutations have been described for this gene in infertile men. Here, we report a patient diagnosed with infertility in whom a homozygous nonsense mutation in the CSTF2T gene was detected by clinical exome sequencing. This case is the first description of an infertile patient who has a homozygous CSTF2T mutation.
Mol Syndromol

中文翻译：

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首例CSTF2T基因突变的不育病例

男性不育是多因素的，表现出异质的表型特征。遗传因素占男性不育病例的15％。该损失Cstf2t在不孕不育雄性小鼠的结果基因。在不育男性中，该基因尚无与疾病相关的突变。在这里，我们报告了一名诊断为不育症的患者，其中通过临床外显子组测序检测到CSTF2T基因的纯合性无意义突变。该病例是对具有纯合CSTF2T突变的不育患者的首次描述。
摩尔综合症