Identification of 13 novel <i>NLRP7</i> mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region

Abstract

13 novel mutations in NLRP7 were identified. We confirm that mutations in NLRP7 affect female but not male reproduction, and provide evidence that transcript variant 2 of NLRP7 is the important isoform in this condition. The mutation clustering seen confirms that the LRR is critical for normal functioning of NLRP7.