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

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

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 th...

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Bibliographic Details
Main Authors: Minying Zhao, Fan Feng, Chunfang Chu, Wentao Yue, Lin Li
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Journal of Ovarian Research
Subjects:
Diminished ovarian reserve
Whole-exome sequencing
EIF4ENIF1
Premature ovarian failure
Online Access:https://doi.org/10.1186/s13048-019-0595-0

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