Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant

Galloway-Mowat syndrome (GAMOS) is an autosomal recessively inherited condition characterized by the association of nephrotic syndrome and central nervous system involvement [1]. The consistent hallmarks are early-onset steroid-resistant nephrotic syndrome and microcephaly which is often present at birth. Most patients die in the first years of life. Prenatal diagnosis of GAMOS is rare. We here describe the prenatal sonographic features of a case with GAMOS3, in which the diagnosis was achieved by exome sequencing.

Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - September 20, 2019 Category: OBGYN Authors: Yu Yang, Yi He, Li Zhen, Dong-Zhi Li Tags: Correspondence Source Type: research