Searchable abstracts of presentations at key conferences in endocrinology

ea0029oc16.2 | Female Reproduction Clinical | ICEECE2012

The first missense mutation of BMP15 mature domain identified in a Chinese family with primary ovarian insufficiency causes defective production of the bioactive protein

Rossetti R. , Beccaria E. , Persani L.

Primary Ovarian Insufficiency (POI) is an ovarian defect characterized by the premature depletion of ovarian follicles before 40 years and represents one major cause of female infertility. POI is a heterogeneous disease but, despite its idiopathic origin in most of patients, there is a strong genetic evidence, in particular for X chromosome-linked defects. BMP15 gene maps to Xp11.2 within a Turner locus critical for ovarian function and mutations in this gene have been found i...