Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families

Abstract

We describe consanguineous families with clinical features of antenatal oligohydramnios and bilateral renal agenesis, in whom we have identified novel pathogenic variants in FRAS1 and FREM2. These finding highlights the association between mutations in FRAS1 and FREM2 and antenatal/perinatal death.