Recurrent hydatidiform moles: detection of a new mutation in the NLRP7 gene in the family

Hydatidiform moles are the most common type of gestational trophoblastic neoplasia. Hyperproliferative vesicular trophoblasts and imperfect fetal development abnormal pregnancies, recurrent hydatidiform rare. Mutations in NLRP7 responsible for mole. Genetic heterogeneity has been demonstrated patients with mutation. This study presents our case gravida 11, parity 0, histopathologically diagnosed six five missed abortion histories at age 35. Karyotype analyses unrelated couple were normal. A genetic examination revealed a novel mutation gene patient, his brother, parents. Detecting new cases provides further evidence predetermined role mutations pathophysiology hydatidiform. Based on findings, we hope to contribute literature by expanding spectrum pregnancy loss associated patients.