The homozygous p.Tyr228Cys variant in CDC20 causes oocyte maturation arrest: an additional evidence supporting the causality between CDC20 mutation and female infertility
The homozygous p.Tyr228Cys variant in CDC20 causes oocyte maturation arrest: an additional evidence supporting the causality between CDC20 mutation and female infertility
复制标题
DOI：
10.1007/s10815-021-02269-z
复制
发表时间：
2021-07
影响因子：
3.1
通讯作者：
Yao Xu;Xiuxian Zhu;Miao Wang;Luyi Cai;Qiulin Ge;Yonglun Fu;Liping Jin
中科院分区：
文献类型：
--
作者：
Yao Xu;Xiuxian Zhu;Miao Wang;Luyi Cai;Qiulin Ge;Yonglun Fu;Liping Jin
To the editor: Oocyte maturation arrest (OMA) is one of the major causes of recurrent failure of assisted reproductive therapies. Since the phenotype was first reported in 1990, the genetic causes underlying this phenotype had been largely unknown until 2016, when mutations in TUBB8 (MIM: 616768) were reported to cause oocyte metaphase I (MI) arrest [1]. Subsequently, biallelic mutations in mRNA-binding protein PATL2 were reported to cause oocyte germinal vesicle (GV) arrest [2]. TRIP13 (MIM: 604507) was the third gene identified to be responsible for OMA, and biallelic pathogenic mutations of TRIP13 could lead to oocyte MI arrest [3]. However, the abovementioned gene mutations contribute to approximate 30–40% patients with defect in oocyte maturation, leaving the remaining 60% of cases with yet unknown genetic determinations.Recently, biallelic mutations in CDC20 (MIM: 603618), encoding a co-activator of anaphase-promoting complex (APC), were reported in five unrelated families with multiplicity phenotypes, including abnormalities in oocyte maturation and early embryonic development [4]. In that article, one patient from a consanguineous family who displayed the
