首例基因突变导致的不孕症病例。
First Infertile Case with Gene Mutation.
作者信息
Gorukmez Ozlem, Gorukmez Orhan
机构信息
Department of Medical Genetics, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Turkey.
出版信息
Mol Syndromol. 2020 Nov;11(4):228-231. doi: 10.1159/000509686. Epub 2020 Sep 14.
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 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 gene was detected by clinical exome sequencing. This case is the first description of an infertile patient who has a homozygous mutation.
摘要
男性不育是多因素导致的，具有异质性的表型特征。遗传因素导致高达15%的男性不育病例。雄性小鼠中该基因的缺失会导致不育。在不育男性中尚未发现与该基因相关的疾病突变。在此，我们报告一名被诊断为不育的患者，通过临床外显子组测序检测到该基因存在纯合无义突变。该病例是首例关于具有纯合该基因突变的不育患者的描述。
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