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Abstract：
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.
摘要：
男性不育是多因素的，具有异质性的表型特征。遗传因素占男性不育病例的15%。Cstf2t基因在雄性小鼠中的缺失导致不育。在不育男性中，尚未发现该基因的疾病相关突变。这里,我们报道了1例诊断为不育症的患者,通过临床外显子组测序检测到CSTF2T基因的纯合无义突变.该病例是对具有纯合CSTF2T突变的不育患者的首次描述。
