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Mutation identified that is associated with premature ovarian failure

Premature () is estimated to affect 1-4% of the female population.

Women with POF can present with a variety of symptoms and many genes have been linked to this condition.

A new study in the identifies a specific mutation in a family that results in POF.

and colleagues at the University of Pittsburgh studied 3 sisters with POF-associated symptoms and identified and mutation in MCM8, a gene involved in chromosome maintenance.

Siblings without the MCM8 mutation did not have any signs of POF.

Cells from the affected sisters exhibited an inability to repair DNA damage.

The results of this study indicate that chromosomal instability may be a factor in the development of POF.


Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability


Journal of Clinical Investigation