Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome

ConclusionsThe three novel point mutations in FSHR were all functional inactivating mutations, and were the genetic aetiology of the three non-syndromic POI-with-ROS families. We report the first FSHR frameshift mutation, and the first missense mutation in the signal peptide-encoding region of FSHR to be associated with POI. Women affected by ROS should consider undergoing mutation screening for FSHR.
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research