The ART Center, Northwest Women and Children's Hospital, Xi'an, China.
Gynecol Endocrinol. 2021 Mar;37(3):283-284. doi: 10.1080/09513590.2020.1832069. Epub 2020 Oct 19.
The genetic reasons of total fertilization failure (TFF), especially regarding suspected oocyte-related factors, are largely unknown. Only , and mutations have been shown to result in human fertilization failure. The aim of this study is to report a new mutation which causes female infertility and total fertilization failure.
A patient presenting TFF after two failed cycles was included. In the first cycle, 13 oocytes were obtained, all of which were inseminated by IVF, but there was no sign of fertilization. In the second cycle, 11 oocytes were obtained, 8 of which were matured; however, none were fertilized upon ICSI and ICSI-AOA. Peripheral blood samples were taken from the patient and her family members. The whole-exome sequencing was performed on them.
We identified two heterozygous missense variants (NM_153447.4: c.1598G > C and 1919 T > G; p.Arg533Pro and Leu640Arg) which could cause the incidence of TFF. The first mutation of c.1598G > C (p.Arg533Pro) was inherited from her father and the second mutation of c.1919T > G (Leu640Arg) was inherited from her mother. The sister with normal fertility did not carry these variants.
A new mutation causes female infertility and the incidence of TFF.
总受精失败（TFF）的遗传原因，特别是与疑似卵母细胞相关的因素，在很大程度上尚不清楚。只有 、 和 突变已被证明导致人类受精失败。本研究旨在报告一种新的 突变，该突变导致女性不育和总受精失败。
纳入一名经历两次失败周期后出现 TFF 的患者。在第一个周期中，获得了 13 个卵母细胞，所有卵母细胞均通过 IVF 受精，但没有受精迹象。在第二个周期中，获得了 11 个卵母细胞，其中 8 个成熟；然而，ICSI 和 ICSI-AOA 均未受精。从患者及其家庭成员中采集外周血样本。对他们进行全外显子组测序。
我们鉴定出两个杂合错义变异 （NM_153447.4：c.1598G > C 和 1919T > G；p.Arg533Pro 和 Leu640Arg），这可能导致 TFF 的发生。c.1598G > C（p.Arg533Pro）的第一个突变来自她的父亲，c.1919T > G（Leu640Arg）的第二个突变来自她的母亲。具有正常生育能力的姐姐没有携带这些变异。
一种新的 突变导致女性不育和 TFF 的发生。
