Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

ABSTRACT:

Context

Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% of individuals with hypergonadotropic hypogonadism presenting as POI, the molecular etiology is unknown. Common etiologies include chromosomal abnormalities, environmental factors, and congenital disorders affecting ovarian development and function, as well as syndromic and nonsyndromic single gene disorders suggesting POI represents a complex trait.

Objective

To characterize the contribution of known disease genes to POI and identify molecular etiologies and biological underpinnings of POI.

Design, setting, and participants

We applied exome sequencing (ES) and family-based genomics to 42 affected female individuals

SUBMITTER: Jolly A 

PROVIDER: S-EPMC6563799 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature