Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.

ABSTRACT:

Context

Primary ovarian insufficiency (POI), or premature ovarian failure, results from ovarian follicle depletion with a consequent elevation of FSH levels before age 40 years. We identified a family in which 9 women in 3 consecutive generations developed menopause at approximately age 30 years. We hypothesized a genetic cause with a dominant mode of inheritance.

Design

This was a family-based genetic study and a replicate group of women with POI.

Setting

The study was conducted at an academic medical center.

Patients

Seven affected women and an obligate carrier and 7 unaffected family members were genotyped. The genes of interest were also sequenced in 38 unrelated women with POI.

Intervention

The DNA from 7 family members was subjected to whole-exome

SUBMITTER: Kasippillai T 

PROVIDER: S-EPMC5393467 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature