A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.,Clinical Genetics

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A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-03-29 , DOI: 10.1111/cge.13744
Yao Xu ₁ , Ying Qian ₂ , Yu Liu ₂ , Qiaofeng Wang ₂ , Rongxiang Wang ₂ , Yiwen Zhou ₂ , Caixia Zhang ₂ , Zhi Pang ₂ , Hongjuan Ye ₂ , Songguo Xue ₂ , Lihua Sun ₂

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Early embryonic arrest is one of the major causes of recurrent assisted reproduction failure. It is characterized by delayed embryonic development and failure to form viable eight‐cell stage embryos on day 3 of an assisted reproduction cycle. A recent study reported that biallelic mutations in NLRP5 can cause early embryonic arrest. NLRP5 is a member of subcortical maternal complex, which plays a significant role in embryogenesis. In this study, we described a female in a consanguineous Chinese family who displayed clinical features of early embryonic arrest and identified a novel homozygous variant c.1061C>T (p.Pro354Leu) in NLRP5 . This is the second report of the biallelic NLRP5 variant that associates with early embryonic arrest in humans, further confirming the role of NLRP5 variants in early embryonic arrest and expanding the spectrum of known pathogenic variants in NLRP5 .

更新日期：2020-03-29

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