Prenatal Diagnosis for Restrictive Dermopathy Caused by Novel Mutations in ZMPSTE24 Gene and Review of Clinical Features and Pathogenic Mutations Described in Literatures

Restrictive dermopathy (RD) is a rare disorder causing stillbirth or early neonatal death. Mutations in ZMPSTE24 and LMNA genes are reported as the causes of RD. In this report, we identified two novel, biparental-origin mutations of ZMPSTE24 gene in a family with two consecutive pregnancies demonstrated with prenatal ultrasonography features of RD. Considering the lethal outcome of RD, molecular genetic analysis has been applied in the prenatal diagnosis of their second affected fetus and the subsequent pregnancy. Moreover, we summarized the prenatal and postnatal features of RD patients, as well as pathogenic mutations described in the literature. Better awareness of clinical features and molecular pathogenesis of RD could be of significance in prenatal diagnosis and appropriate management of the disorder.