Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI.

ABSTRACT:

Background

Premature ovarian insufficiency (POI) is an ovarian defect characterized by primary or secondary amenorrhea, hypergonadotropism and hypoestrogenism which occurs before the age of 40 years with a major genetic component. In this study we performed clinical evaluation and genetic analysis of a group of 18 patients with POI. The study involved 18 consecutive women with POI. Karyotiping and genetic analysis for research of mutations in GDF9 (Growth Differentation Factor 9) and BMP15 (Bone morphogentic protein 15) genes and FMR1 (Fragile X Mental Retardation 1) premutation were carried out. In vitro functional study of the novel BMP15 mutation was performed using COV434 (Human ovarian granulosa tumour cells 434) cells of ovarian granulosa, which consistently express BMP respo

SUBMITTER: Ferrarini E 

PROVIDER: S-EPMC8244212 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature