临床基因组学杂志

NLRP7 Mutation in a Patient with Recurrent Hydatidiform Mole: a Case Report and Literature Review

Rodríguez SV; Berto RQ; Sanoyan FA; Moll JR; Cruz RQ; Marín AP

Familial Recurrent Hydatidiform Moles is a rare condition where patients have an inherited predisposition to have molar pregnancies. We present a case of a young woman with a recessive intron 7 mutation of the NLRP7 gene which led her to have two hydatidiform moles. Due to the future reproductive implications this condition has, an appropriate counseling about these issues ought to be offered even if there are not enough evidence about this topic.