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Journal of Ovarian Research

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Open Access 01-12-2019 | Research

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing

Authors: Minying Zhao, Fan Feng, Chunfang Chu, Wentao Yue, Lin Li

Published in: Journal of Ovarian Research | Issue 1/2019

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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Title: A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing
Authors: Minying Zhao
Fan Feng
Chunfang Chu
Wentao Yue
Lin Li
Publication date: 01-12-2019
Publisher: BioMed Central
Published in: Journal of Ovarian Research / Issue 1/2019
Electronic ISSN: 1757-2215
DOI: https://doi.org/10.1186/s13048-019-0595-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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