A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency

Premature ovarian insufficiency (POI) leads to early loss of ovarian function in women aged < 40 years and is highly heterogeneous in etiology. The genetic etiology of this disorder remains unknown in most women with POI. Whole-exome sequencing (WES) was used to analyze genetic factors within a Chinese POI pedigree. Bioinformatic analysis was applied to identify the potential genetic cause, and Sanger sequencing confirmed the existence of a...