A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.

Here, we have three strong arguments that permit to conclude without any doubt that the identified variant is responsible for the patient's infertility: (i) several publications have linked ZP1 defects with OMD and several missense variants were postulated to be deleterious 21 (Table 2 ); (ii) the identified variant is predicted by 20 out of 25 prediction softwares to be deleterious and (iii) this very rare variant is found in five affected subjects and the difference in the variant frequency between the patients' group and a control population is most highly significant ( p . value = 2E−31).

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