| Summary: | Abstract Background To dissect the genetic causes underlying diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI) within a family. Methods Whole-exome sequencing of the proband was performed and DOR and Sanger sequencing was carried out to validate presence of the variant in the proband and her mother. In silico algorithms were used to analyze the mutational effect of the variant. PSIPRED (PSI-blast based secondary structure PREDiction) was used for predicting mutated protein secondary structures. Results Using whole-exome sequencing, we found that the proband carries the mutation c.2525A > C;p.Q842P in EIF4ENIF, a POI-related gene. Through Sanger sequencing, we found that the proband’s mother also carries the same mutation. Online bioinformatics analysis suggests that the mutation is a pathogenic mutation. Secondary structural biology prediction analysis indicates that the mutation either causes the destruction of the α-helical structure around the mutation site or reduces the α-helix. Conclusions This mutation is the second novel mutation of EIF4ENIF1 that has been identified in POI patients. This study thus provides a theoretical basis for POI genetics and POI clinical genetic counseling.
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