Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.

ABSTRACT:

Background

Premature ovarian insufficiency (POI) occurs in women before the age of 40 years, accompanied by amenorrhea, hypoestrogenism, hypergonadotropinism, and infertility. The pathology of POI is complex and the molecular genetic mechanisms are poorly understood. Bone morphogenetic protein 15 (BMP15) plays a crucial role in oocyte maturation and follicular development through the activation of granulosa cells. Dysfunction of BMP15 causes ovarian dysgenesis and is related to POI. Identifying pathogenic variants contributes to revealing genetic mechanisms and making clinical diagnoses of POI.

Methods

The study involved two sisters diagnosed with POI. Whole-exome sequencing (WES) was performed to identify causative genes. Sanger sequencing was used to validate the mutations

SUBMITTER: Zhang T 

PROVIDER: S-EPMC9474791 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature